Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal nervous system physiology (HP:0012638)

Parent Node:
Abnormality of higher mental function (HP:0011446)

..Starting node
..Language impairment (HP:0002463)

Term ID:

2463

Name:

Language impairment

Synonym:

Language disorder; Language impairment

Definition:

Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.

Comments:

Reference:

HP:0002463

Genes and Diseases:

Child Nodes:

........

Spoken Word Recognition Deficit (HP:0030391)

Sister Nodes:

Agnosia (HP:0010524)

Apraxia (HP:0002186)

Cognitive impairment (HP:0100543)

Micrographia (HP:0031908)

Neurological speech impairment (HP:0002167)

Optic ataxia (HP:0031868)

Reduced consciousness/confusion (HP:0004372)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002463	HP:0002463	Language impairment	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0002463	HP:0002463	Language impairment	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0002463	HP:0002463	Language impairment	0	AASS CL E G H	10157	17366	OMIM:238700	Hyperlysinemia, type I			15
HP:0002463	HP:0002463	Language impairment	0	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		3
HP:0002463	HP:0002463	Language impairment	0	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0002463	HP:0002463	Language impairment	0	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency			58
HP:0002463	HP:0002463	Language impairment	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0002463	HP:0002463	Language impairment	0	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of			90
HP:0002463	HP:0002463	Language impairment	0	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency			90
HP:0002463	HP:0002463	Language impairment	0	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0002463	HP:0002463	Language impairment	0	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0002463	HP:0002463	Language impairment	0	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6			2
HP:0002463	HP:0002463	Language impairment	0	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia			68
HP:0002463	HP:0002463	Language impairment	0	ACSL4 CL E G H	2182	3571	OMIM:300387	MENTAL RETARDATION, X-LINKED 63; MRX63			19
HP:0002463	HP:0002463	Language impairment	0	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76			2
HP:0002463	HP:0002463	Language impairment	0	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects			2
HP:0002463	HP:0002463	Language impairment	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0002463	HP:0002463	Language impairment	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0002463	HP:0002463	Language impairment	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0002463	HP:0002463	Language impairment	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0002463	HP:0002463	Language impairment	0	ADCY5 CL E G H	111	236	OMIM:619647	DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR			25
HP:0002463	HP:0002463	Language impairment	0	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0002463	HP:0002463	Language impairment	0	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3			3
HP:0002463	HP:0002463	Language impairment	0	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040282 - Frequent		88
HP:0002463	HP:0002463	Language impairment	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		88
HP:0002463	HP:0002463	Language impairment	0	ADGRG1 CL E G H	9289	4512	OMIM:615752	POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR			88
HP:0002463	HP:0002463	Language impairment	0	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0002463	HP:0002463	Language impairment	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0002463	HP:0002463	Language impairment	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0002463	HP:0002463	Language impairment	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome	.		47
HP:0002463	HP:0002463	Language impairment	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency			118
HP:0002463	HP:0002463	Language impairment	0	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency			118
HP:0002463	HP:0002463	Language impairment	0	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability			59
HP:0002463	HP:0002463	Language impairment	0	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe			59
HP:0002463	HP:0002463	Language impairment	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria			76
HP:0002463	HP:0002463	Language impairment	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA			76
HP:0002463	HP:0002463	Language impairment	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0002463	HP:0002463	Language impairment	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0002463	HP:0002463	Language impairment	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0002463	HP:0002463	Language impairment	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0002463	HP:0002463	Language impairment	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy			60
HP:0002463	HP:0002463	Language impairment	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17			1
HP:0002463	HP:0002463	Language impairment	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B			89
HP:0002463	HP:0002463	Language impairment	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive			89
HP:0002463	HP:0002463	Language impairment	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2			74
HP:0002463	HP:0002463	Language impairment	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency			108
HP:0002463	HP:0002463	Language impairment	0	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent			227
HP:0002463	HP:0002463	Language impairment	0	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency			50
HP:0002463	HP:0002463	Language impairment	0	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip			41
HP:0002463	HP:0002463	Language impairment	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0002463	HP:0002463	Language impairment	0	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG			96
HP:0002463	HP:0002463	Language impairment	0	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF			12
HP:0002463	HP:0002463	Language impairment	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0002463	HP:0002463	Language impairment	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0002463	HP:0002463	Language impairment	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0002463	HP:0002463	Language impairment	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0002463	HP:0002463	Language impairment	0	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome			25
HP:0002463	HP:0002463	Language impairment	0	ANK3 CL E G H	288	494	ORPHA:356996	ANK3-related intellectual disability-sleep disturbance syndrome			176
HP:0002463	HP:0002463	Language impairment	0	ANK3 CL E G H	288	494	OMIM:615493	Mental retardation, autosomal recessive 37			176
HP:0002463	HP:0002463	Language impairment	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0002463	HP:0002463	Language impairment	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0002463	HP:0002463	Language impairment	0	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0002463	HP:0002463	Language impairment	0	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0002463	HP:0002463	Language impairment	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy
HP:0002463	HP:0002463	Language impairment	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48			7
HP:0002463	HP:0002463	Language impairment	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			7
HP:0002463	HP:0002463	Language impairment	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive			49
HP:0002463	HP:0002463	Language impairment	0	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10			1
HP:0002463	HP:0002463	Language impairment	0	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3			1
HP:0002463	HP:0002463	Language impairment	0	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		74
HP:0002463	HP:0002463	Language impairment	0	ARF1 CL E G H	375	652	OMIM:618185	Periventricular nodular heterotopia 8
HP:0002463	HP:0002463	Language impairment	0	ARFGEF1 CL E G H	10565	15772	OMIM:619964
HP:0002463	HP:0002463	Language impairment	0	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate			6
HP:0002463	HP:0002463	Language impairment	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0002463	HP:0002463	Language impairment	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0002463	HP:0002463	Language impairment	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0002463	HP:0002463	Language impairment	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0002463	HP:0002463	Language impairment	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0002463	HP:0002463	Language impairment	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0002463	HP:0002463	Language impairment	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0002463	HP:0002463	Language impairment	0	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0002463	HP:0002463	Language impairment	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0002463	HP:0002463	Language impairment	0	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0002463	HP:0002463	Language impairment	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0002463	HP:0002463	Language impairment	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0002463	HP:0002463	Language impairment	0	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome			166
HP:0002463	HP:0002463	Language impairment	0	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome			166
HP:0002463	HP:0002463	Language impairment	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0002463	HP:0002463	Language impairment	0	ASPA CL E G H	443	756	ORPHA:314918	Mild Canavan disease			48
HP:0002463	HP:0002463	Language impairment	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease			48
HP:0002463	HP:0002463	Language impairment	0	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive			512
HP:0002463	HP:0002463	Language impairment	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0002463	HP:0002463	Language impairment	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0002463	HP:0002463	Language impairment	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome			49
HP:0002463	HP:0002463	Language impairment	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0002463	HP:0002463	Language impairment	0	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome			5
HP:0002463	HP:0002463	Language impairment	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0002463	HP:0002463	Language impairment	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0002463	HP:0002463	Language impairment	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0002463	HP:0002463	Language impairment	0	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			4
HP:0002463	HP:0002463	Language impairment	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0002463	HP:0002463	Language impairment	0	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98			239
HP:0002463	HP:0002463	Language impairment	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			239
HP:0002463	HP:0002463	Language impairment	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0002463	HP:0002463	Language impairment	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			150
HP:0002463	HP:0002463	Language impairment	0	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0002463	HP:0002463	Language impairment	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0002463	HP:0002463	Language impairment	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH			36
HP:0002463	HP:0002463	Language impairment	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type			36
HP:0002463	HP:0002463	Language impairment	0	ATP6V0A1 CL E G H	535	865	OMIM:619970				1
HP:0002463	HP:0002463	Language impairment	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0002463	HP:0002463	Language impairment	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0002463	HP:0002463	Language impairment	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0002463	HP:0002463	Language impairment	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0002463	HP:0002463	Language impairment	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0002463	HP:0002463	Language impairment	0	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3			3
HP:0002463	HP:0002463	Language impairment	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0002463	HP:0002463	Language impairment	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0002463	HP:0002463	Language impairment	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1			14
HP:0002463	HP:0002463	Language impairment	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2			14
HP:0002463	HP:0002463	Language impairment	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0002463	HP:0002463	Language impairment	0	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1			49
HP:0002463	HP:0002463	Language impairment	0	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0002463	HP:0002463	Language impairment	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0002463	HP:0002463	Language impairment	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0002463	HP:0002463	Language impairment	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0002463	HP:0002463	Language impairment	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0002463	HP:0002463	Language impairment	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0002463	HP:0002463	Language impairment	0	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0002463	HP:0002463	Language impairment	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0002463	HP:0002463	Language impairment	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49			3
HP:0002463	HP:0002463	Language impairment	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES			3
HP:0002463	HP:0002463	Language impairment	0	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome			17
HP:0002463	HP:0002463	Language impairment	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040281 - Very frequent		5
HP:0002463	HP:0002463	Language impairment	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0002463	HP:0002463	Language impairment	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0002463	HP:0002463	Language impairment	0	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate			38
HP:0002463	HP:0002463	Language impairment	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0002463	HP:0002463	Language impairment	0	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D			90
HP:0002463	HP:0002463	Language impairment	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0002463	HP:0002463	Language impairment	0	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0002463	HP:0002463	Language impairment	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures			20
HP:0002463	HP:0002463	Language impairment	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S			5769
HP:0002463	HP:0002463	Language impairment	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0002463	HP:0002463	Language impairment	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis			10
HP:0002463	HP:0002463	Language impairment	0	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93			104
HP:0002463	HP:0002463	Language impairment	0	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy			105
HP:0002463	HP:0002463	Language impairment	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0002463	HP:0002463	Language impairment	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0002463	HP:0002463	Language impairment	0	C12ORF4 CL E G H	57102	1184	OMIM:618221	Mental retardation, autosomal recessive 66			2
HP:0002463	HP:0002463	Language impairment	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4			114
HP:0002463	HP:0002463	Language impairment	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV			27
HP:0002463	HP:0002463	Language impairment	0	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia			56
HP:0002463	HP:0002463	Language impairment	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0002463	HP:0002463	Language impairment	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			449
HP:0002463	HP:0002463	Language impairment	0	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements			5
HP:0002463	HP:0002463	Language impairment	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0002463	HP:0002463	Language impairment	0	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0002463	HP:0002463	Language impairment	0	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69			11
HP:0002463	HP:0002463	Language impairment	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			59
HP:0002463	HP:0002463	Language impairment	0	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay			48
HP:0002463	HP:0002463	Language impairment	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0002463	HP:0002463	Language impairment	0	CAMK2A CL E G H	815	1460	OMIM:618095	Mental retardation, autosomal recessive 63			1
HP:0002463	HP:0002463	Language impairment	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0002463	HP:0002463	Language impairment	0	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0002463	HP:0002463	Language impairment	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0002463	HP:0002463	Language impairment	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability			34
HP:0002463	HP:0002463	Language impairment	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0002463	HP:0002463	Language impairment	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0002463	HP:0002463	Language impairment	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0002463	HP:0002463	Language impairment	0	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0002463	HP:0002463	Language impairment	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0002463	HP:0002463	Language impairment	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0002463	HP:0002463	Language impairment	0	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3			57
HP:0002463	HP:0002463	Language impairment	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0002463	HP:0002463	Language impairment	0	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0002463	HP:0002463	Language impairment	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0002463	HP:0002463	Language impairment	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0002463	HP:0002463	Language impairment	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0002463	HP:0002463	Language impairment	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0002463	HP:0002463	Language impairment	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0002463	HP:0002463	Language impairment	0	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome			1
HP:0002463	HP:0002463	Language impairment	0	CCND2 CL E G H	894	1583	OMIM:615938	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3			11
HP:0002463	HP:0002463	Language impairment	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0002463	HP:0002463	Language impairment	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0002463	HP:0002463	Language impairment	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0002463	HP:0002463	Language impairment	0	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate			1003
HP:0002463	HP:0002463	Language impairment	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0002463	HP:0002463	Language impairment	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0002463	HP:0002463	Language impairment	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0002463	HP:0002463	Language impairment	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0002463	HP:0002463	Language impairment	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0002463	HP:0002463	Language impairment	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0002463	HP:0002463	Language impairment	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0002463	HP:0002463	Language impairment	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0002463	HP:0002463	Language impairment	0	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly			200
HP:0002463	HP:0002463	Language impairment	0	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0002463	HP:0002463	Language impairment	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0002463	HP:0002463	Language impairment	0	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6			161
HP:0002463	HP:0002463	Language impairment	0	CEP63 CL E G H	80254	25815	OMIM:614728	Seckel syndrome 6			31
HP:0002463	HP:0002463	Language impairment	0	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8			1
HP:0002463	HP:0002463	Language impairment	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0002463	HP:0002463	Language impairment	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0002463	HP:0002463	Language impairment	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0002463	HP:0002463	Language impairment	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0002463	HP:0002463	Language impairment	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0002463	HP:0002463	Language impairment	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy			227
HP:0002463	HP:0002463	Language impairment	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome			2
HP:0002463	HP:0002463	Language impairment	0	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0002463	HP:0002463	Language impairment	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0002463	HP:0002463	Language impairment	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0002463	HP:0002463	Language impairment	0	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type			53
HP:0002463	HP:0002463	Language impairment	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0002463	HP:0002463	Language impairment	0	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia			42
HP:0002463	HP:0002463	Language impairment	0	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45			39
HP:0002463	HP:0002463	Language impairment	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0002463	HP:0002463	Language impairment	0	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0002463	HP:0002463	Language impairment	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome			45
HP:0002463	HP:0002463	Language impairment	0	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0002463	HP:0002463	Language impairment	0	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0002463	HP:0002463	Language impairment	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome			4
HP:0002463	HP:0002463	Language impairment	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040282 - Frequent		141
HP:0002463	HP:0002463	Language impairment	0	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8			111
HP:0002463	HP:0002463	Language impairment	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type			111
HP:0002463	HP:0002463	Language impairment	0	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10			7
HP:0002463	HP:0002463	Language impairment	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10			7
HP:0002463	HP:0002463	Language impairment	0	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A			38
HP:0002463	HP:0002463	Language impairment	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0002463	HP:0002463	Language impairment	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0002463	HP:0002463	Language impairment	0	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG			18
HP:0002463	HP:0002463	Language impairment	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			18
HP:0002463	HP:0002463	Language impairment	0	CNNM2 CL E G H	54805	103	OMIM:616418	Hypomagnesemia, seizures, and mental retardation			47
HP:0002463	HP:0002463	Language impairment	0	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS			2
HP:0002463	HP:0002463	Language impairment	0	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0002463	HP:0002463	Language impairment	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0002463	HP:0002463	Language impairment	0	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1	.		518
HP:0002463	HP:0002463	Language impairment	0	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0002463	HP:0002463	Language impairment	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0002463	HP:0002463	Language impairment	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0002463	HP:0002463	Language impairment	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0002463	HP:0002463	Language impairment	0	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj			67
HP:0002463	HP:0002463	Language impairment	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome			67
HP:0002463	HP:0002463	Language impairment	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0002463	HP:0002463	Language impairment	0	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I			79
HP:0002463	HP:0002463	Language impairment	0	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome			71
HP:0002463	HP:0002463	Language impairment	0	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome			71
HP:0002463	HP:0002463	Language impairment	0	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0002463	HP:0002463	Language impairment	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome			749
HP:0002463	HP:0002463	Language impairment	0	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0002463	HP:0002463	Language impairment	0	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11			25
HP:0002463	HP:0002463	Language impairment	0	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63			1
HP:0002463	HP:0002463	Language impairment	0	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy			1
HP:0002463	HP:0002463	Language impairment	0	CRADD CL E G H	8738	2340	OMIM:614499	Mental retardation, autosomal recessive 34, with variant lissencephaly			6
HP:0002463	HP:0002463	Language impairment	0	CRAT CL E G H	1384	2342	OMIM:617917	Neurodegeneration with brain iron accumulation 8
HP:0002463	HP:0002463	Language impairment	0	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2			19
HP:0002463	HP:0002463	Language impairment	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0002463	HP:0002463	Language impairment	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0002463	HP:0002463	Language impairment	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0002463	HP:0002463	Language impairment	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040281 - Very frequent
HP:0002463	HP:0002463	Language impairment	0	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome			12
HP:0002463	HP:0002463	Language impairment	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0002463	HP:0002463	Language impairment	0	CTBP1 CL E G H	1487	2494	OMIM:617915	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome			2
HP:0002463	HP:0002463	Language impairment	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0002463	HP:0002463	Language impairment	0	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9			2
HP:0002463	HP:0002463	Language impairment	0	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome			273
HP:0002463	HP:0002463	Language impairment	0	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0002463	HP:0002463	Language impairment	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0002463	HP:0002463	Language impairment	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0002463	HP:0002463	Language impairment	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0002463	HP:0002463	Language impairment	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0002463	HP:0002463	Language impairment	0	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency			9
HP:0002463	HP:0002463	Language impairment	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17			9
HP:0002463	HP:0002463	Language impairment	0	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65			1
HP:0002463	HP:0002463	Language impairment	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0002463	HP:0002463	Language impairment	0	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy			108
HP:0002463	HP:0002463	Language impairment	0	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9			108
HP:0002463	HP:0002463	Language impairment	0	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9			108
HP:0002463	HP:0002463	Language impairment	0	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0002463	HP:0002463	Language impairment	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0002463	HP:0002463	Language impairment	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0002463	HP:0002463	Language impairment	0	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2			36
HP:0002463	HP:0002463	Language impairment	0	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome			5
HP:0002463	HP:0002463	Language impairment	0	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation	HP:0040281 - Very frequent		145
HP:0002463	HP:0002463	Language impairment	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0002463	HP:0002463	Language impairment	0	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder			33
HP:0002463	HP:0002463	Language impairment	0	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome			33
HP:0002463	HP:0002463	Language impairment	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0002463	HP:0002463	Language impairment	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0002463	HP:0002463	Language impairment	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49			6
HP:0002463	HP:0002463	Language impairment	0	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities			47
HP:0002463	HP:0002463	Language impairment	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			47
HP:0002463	HP:0002463	Language impairment	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0002463	HP:0002463	Language impairment	0	DHTKD1 CL E G H	55526	23537	OMIM:204750	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD			12
HP:0002463	HP:0002463	Language impairment	0	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language			4
HP:0002463	HP:0002463	Language impairment	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0002463	HP:0002463	Language impairment	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0002463	HP:0002463	Language impairment	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0002463	HP:0002463	Language impairment	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0002463	HP:0002463	Language impairment	0	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly			22
HP:0002463	HP:0002463	Language impairment	0	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate
HP:0002463	HP:0002463	Language impairment	0	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90			30
HP:0002463	HP:0002463	Language impairment	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0002463	HP:0002463	Language impairment	0	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0002463	HP:0002463	Language impairment	0	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0002463	HP:0002463	Language impairment	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0002463	HP:0002463	Language impairment	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0002463	HP:0002463	Language impairment	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0002463	HP:0002463	Language impairment	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0002463	HP:0002463	Language impairment	0	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly			3
HP:0002463	HP:0002463	Language impairment	0	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate			1
HP:0002463	HP:0002463	Language impairment	0	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy			1496
HP:0002463	HP:0002463	Language impairment	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0002463	HP:0002463	Language impairment	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0002463	HP:0002463	Language impairment	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0002463	HP:0002463	Language impairment	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0002463	HP:0002463	Language impairment	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0002463	HP:0002463	Language impairment	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0002463	HP:0002463	Language impairment	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0002463	HP:0002463	Language impairment	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0002463	HP:0002463	Language impairment	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0002463	HP:0002463	Language impairment	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0002463	HP:0002463	Language impairment	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0002463	HP:0002463	Language impairment	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0002463	HP:0002463	Language impairment	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0002463	HP:0002463	Language impairment	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0002463	HP:0002463	Language impairment	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0002463	HP:0002463	Language impairment	0	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient			3
HP:0002463	HP:0002463	Language impairment	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0002463	HP:0002463	Language impairment	0	DNM1 CL E G H	1759	2972	OMIM:616346	Epileptic encephalopathy, early infantile, 31			72
HP:0002463	HP:0002463	Language impairment	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			72
HP:0002463	HP:0002463	Language impairment	0	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect			94
HP:0002463	HP:0002463	Language impairment	0	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0002463	HP:0002463	Language impairment	0	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia			3
HP:0002463	HP:0002463	Language impairment	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0002463	HP:0002463	Language impairment	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0002463	HP:0002463	Language impairment	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0002463	HP:0002463	Language impairment	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0002463	HP:0002463	Language impairment	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0002463	HP:0002463	Language impairment	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0002463	HP:0002463	Language impairment	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0002463	HP:0002463	Language impairment	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome			144
HP:0002463	HP:0002463	Language impairment	0	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency			144
HP:0002463	HP:0002463	Language impairment	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0002463	HP:0002463	Language impairment	0	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria			44
HP:0002463	HP:0002463	Language impairment	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0002463	HP:0002463	Language impairment	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0002463	HP:0002463	Language impairment	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease			65
HP:0002463	HP:0002463	Language impairment	0	DYNC1H1 CL E G H	1778	2961	OMIM:614228	Charcot-marie-tooth disease, axonal, type 2O			427
HP:0002463	HP:0002463	Language impairment	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies			1
HP:0002463	HP:0002463	Language impairment	0	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly
HP:0002463	HP:0002463	Language impairment	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0002463	HP:0002463	Language impairment	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0002463	HP:0002463	Language impairment	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0002463	HP:0002463	Language impairment	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12			80
HP:0002463	HP:0002463	Language impairment	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0002463	HP:0002463	Language impairment	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0002463	HP:0002463	Language impairment	0	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33			60
HP:0002463	HP:0002463	Language impairment	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38			60
HP:0002463	HP:0002463	Language impairment	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			60
HP:0002463	HP:0002463	Language impairment	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0002463	HP:0002463	Language impairment	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0002463	HP:0002463	Language impairment	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0002463	HP:0002463	Language impairment	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		223
HP:0002463	HP:0002463	Language impairment	0	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0002463	HP:0002463	Language impairment	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002463	HP:0002463	Language impairment	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0002463	HP:0002463	Language impairment	0	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0002463	HP:0002463	Language impairment	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies			4
HP:0002463	HP:0002463	Language impairment	0	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58			6
HP:0002463	HP:0002463	Language impairment	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0002463	HP:0002463	Language impairment	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0002463	HP:0002463	Language impairment	0	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0002463	HP:0002463	Language impairment	0	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB			1
HP:0002463	HP:0002463	Language impairment	0	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0002463	HP:0002463	Language impairment	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0002463	HP:0002463	Language impairment	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0002463	HP:0002463	Language impairment	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0002463	HP:0002463	Language impairment	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0002463	HP:0002463	Language impairment	0	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome			12
HP:0002463	HP:0002463	Language impairment	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4			12
HP:0002463	HP:0002463	Language impairment	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0002463	HP:0002463	Language impairment	0	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0002463	HP:0002463	Language impairment	0	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive			18
HP:0002463	HP:0002463	Language impairment	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0002463	HP:0002463	Language impairment	0	ERMARD CL E G H	55780	21056	OMIM:615544	Periventricular nodular heterotopia 6			36
HP:0002463	HP:0002463	Language impairment	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0002463	HP:0002463	Language impairment	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B			38
HP:0002463	HP:0002463	Language impairment	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0002463	HP:0002463	Language impairment	0	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome			102
HP:0002463	HP:0002463	Language impairment	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0002463	HP:0002463	Language impairment	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0002463	HP:0002463	Language impairment	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0002463	HP:0002463	Language impairment	0	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD			7
HP:0002463	HP:0002463	Language impairment	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77			36
HP:0002463	HP:0002463	Language impairment	0	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome			12
HP:0002463	HP:0002463	Language impairment	0	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0002463	HP:0002463	Language impairment	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0002463	HP:0002463	Language impairment	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0002463	HP:0002463	Language impairment	0	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0002463	HP:0002463	Language impairment	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0002463	HP:0002463	Language impairment	0	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47			3
HP:0002463	HP:0002463	Language impairment	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0002463	HP:0002463	Language impairment	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0002463	HP:0002463	Language impairment	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0002463	HP:0002463	Language impairment	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0002463	HP:0002463	Language impairment	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0002463	HP:0002463	Language impairment	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0002463	HP:0002463	Language impairment	0	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly			17
HP:0002463	HP:0002463	Language impairment	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0002463	HP:0002463	Language impairment	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0002463	HP:0002463	Language impairment	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0002463	HP:0002463	Language impairment	0	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1			172
HP:0002463	HP:0002463	Language impairment	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0002463	HP:0002463	Language impairment	0	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria			111
HP:0002463	HP:0002463	Language impairment	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0002463	HP:0002463	Language impairment	0	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type			184
HP:0002463	HP:0002463	Language impairment	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0002463	HP:0002463	Language impairment	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0002463	HP:0002463	Language impairment	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0002463	HP:0002463	Language impairment	0	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2			493
HP:0002463	HP:0002463	Language impairment	0	FMN2 CL E G H	56776	14074	OMIM:616193	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47			44
HP:0002463	HP:0002463	Language impairment	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers			30
HP:0002463	HP:0002463	Language impairment	0	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002463	HP:0002463	Language impairment	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion			177
HP:0002463	HP:0002463	Language impairment	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0002463	HP:0002463	Language impairment	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0002463	HP:0002463	Language impairment	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0002463	HP:0002463	Language impairment	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0002463	HP:0002463	Language impairment	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0002463	HP:0002463	Language impairment	0	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly			48
HP:0002463	HP:0002463	Language impairment	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0002463	HP:0002463	Language impairment	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0002463	HP:0002463	Language impairment	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0002463	HP:0002463	Language impairment	0	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech			143
HP:0002463	HP:0002463	Language impairment	0	FOXP2 CL E G H	93986	13875	OMIM:602081	Speech-language disorder-1			143
HP:0002463	HP:0002463	Language impairment	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19			61
HP:0002463	HP:0002463	Language impairment	0	FRA16E CL E G H	2464	3861	OMIM:136570	Chromosome 16p12.1 deletion syndrome, 520-kbfragile site 16p12, included
HP:0002463	HP:0002463	Language impairment	0	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0002463	HP:0002463	Language impairment	0	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0002463	HP:0002463	Language impairment	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0002463	HP:0002463	Language impairment	0	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37			4
HP:0002463	HP:0002463	Language impairment	0	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria			65
HP:0002463	HP:0002463	Language impairment	0	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9			13
HP:0002463	HP:0002463	Language impairment	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0002463	HP:0002463	Language impairment	0	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59			5
HP:0002463	HP:0002463	Language impairment	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0002463	HP:0002463	Language impairment	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			4
HP:0002463	HP:0002463	Language impairment	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0002463	HP:0002463	Language impairment	0	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2			44
HP:0002463	HP:0002463	Language impairment	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			44
HP:0002463	HP:0002463	Language impairment	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0002463	HP:0002463	Language impairment	0	GABRG2 CL E G H	2566	4087	OMIM:618396	Epileptic encephalopathy, early infantile, 74			139
HP:0002463	HP:0002463	Language impairment	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			139
HP:0002463	HP:0002463	Language impairment	0	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency			52
HP:0002463	HP:0002463	Language impairment	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0002463	HP:0002463	Language impairment	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia			351
HP:0002463	HP:0002463	Language impairment	0	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2			91
HP:0002463	HP:0002463	Language impairment	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0002463	HP:0002463	Language impairment	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0002463	HP:0002463	Language impairment	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0002463	HP:0002463	Language impairment	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0002463	HP:0002463	Language impairment	0	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly			2
HP:0002463	HP:0002463	Language impairment	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0002463	HP:0002463	Language impairment	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0002463	HP:0002463	Language impairment	0	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18			33
HP:0002463	HP:0002463	Language impairment	0	GATM CL E G H	2628	4175	OMIM:612718	Cerebral creatine deficiency syndrome 3			86
HP:0002463	HP:0002463	Language impairment	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0002463	HP:0002463	Language impairment	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0002463	HP:0002463	Language impairment	0	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0002463	HP:0002463	Language impairment	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0002463	HP:0002463	Language impairment	0	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39			43
HP:0002463	HP:0002463	Language impairment	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0002463	HP:0002463	Language impairment	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0002463	HP:0002463	Language impairment	0	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1	HP:0040283 - Occasional		107
HP:0002463	HP:0002463	Language impairment	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0002463	HP:0002463	Language impairment	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0002463	HP:0002463	Language impairment	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0002463	HP:0002463	Language impairment	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0002463	HP:0002463	Language impairment	0	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly			173
HP:0002463	HP:0002463	Language impairment	0	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0002463	HP:0002463	Language impairment	0	GLS CL E G H	2744	4331	OMIM:618412	Global developmental delay, progressive ataxia, and elevated glutamine
HP:0002463	HP:0002463	Language impairment	0	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria			6
HP:0002463	HP:0002463	Language impairment	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0002463	HP:0002463	Language impairment	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0002463	HP:0002463	Language impairment	0	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14			34
HP:0002463	HP:0002463	Language impairment	0	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0002463	HP:0002463	Language impairment	0	GNAO1 CL E G H	2775	4389	OMIM:615473	Epileptic encephalopathy, early infantile, 17			36
HP:0002463	HP:0002463	Language impairment	0	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements			36
HP:0002463	HP:0002463	Language impairment	0	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism			101
HP:0002463	HP:0002463	Language impairment	0	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome			12
HP:0002463	HP:0002463	Language impairment	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0002463	HP:0002463	Language impairment	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002463	HP:0002463	Language impairment	0	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome			7
HP:0002463	HP:0002463	Language impairment	0	GNB5 CL E G H	10681	4401	OMIM:617173	Intellectual developmental disorder with cardiac arrhythmia			7
HP:0002463	HP:0002463	Language impairment	0	GNB5 CL E G H	10681	4401	OMIM:617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia			7
HP:0002463	HP:0002463	Language impairment	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0002463	HP:0002463	Language impairment	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0002463	HP:0002463	Language impairment	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0002463	HP:0002463	Language impairment	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum			52
HP:0002463	HP:0002463	Language impairment	0	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0002463	HP:0002463	Language impairment	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0002463	HP:0002463	Language impairment	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0002463	HP:0002463	Language impairment	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0002463	HP:0002463	Language impairment	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002463	HP:0002463	Language impairment	0	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49			4
HP:0002463	HP:0002463	Language impairment	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome			4
HP:0002463	HP:0002463	Language impairment	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0002463	HP:0002463	Language impairment	0	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum			12
HP:0002463	HP:0002463	Language impairment	0	GRIA1 CL E G H	2890	4571	OMIM:619927				3
HP:0002463	HP:0002463	Language impairment	0	GRIA1 CL E G H	2890	4571	OMIM:619931				3
HP:0002463	HP:0002463	Language impairment	0	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB			1
HP:0002463	HP:0002463	Language impairment	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0002463	HP:0002463	Language impairment	0	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0002463	HP:0002463	Language impairment	0	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0002463	HP:0002463	Language impairment	0	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0002463	HP:0002463	Language impairment	0	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant			108
HP:0002463	HP:0002463	Language impairment	0	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive			108
HP:0002463	HP:0002463	Language impairment	0	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD			434
HP:0002463	HP:0002463	Language impairment	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040281 - Very frequent		434
HP:0002463	HP:0002463	Language impairment	0	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome			434
HP:0002463	HP:0002463	Language impairment	0	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27			274
HP:0002463	HP:0002463	Language impairment	0	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46			2
HP:0002463	HP:0002463	Language impairment	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0002463	HP:0002463	Language impairment	0	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency			8
HP:0002463	HP:0002463	Language impairment	0	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44			8
HP:0002463	HP:0002463	Language impairment	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0002463	HP:0002463	Language impairment	0	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia			126
HP:0002463	HP:0002463	Language impairment	0	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0002463	HP:0002463	Language impairment	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0002463	HP:0002463	Language impairment	0	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0002463	HP:0002463	Language impairment	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0002463	HP:0002463	Language impairment	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0002463	HP:0002463	Language impairment	0	HCN1 CL E G H	348980	4845	OMIM:615871	Epileptic encephalopathy, early infantile, 24			54
HP:0002463	HP:0002463	Language impairment	0	HCN1 CL E G H	348980	4845	OMIM:618482	Generalized epilepsy with febrile seizures plus, type 10			54
HP:0002463	HP:0002463	Language impairment	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			54
HP:0002463	HP:0002463	Language impairment	0	HCN4 CL E G H	10021	16882	OMIM:619521	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18; EIG18			185
HP:0002463	HP:0002463	Language impairment	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0002463	HP:0002463	Language impairment	0	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A			82
HP:0002463	HP:0002463	Language impairment	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation			16
HP:0002463	HP:0002463	Language impairment	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0002463	HP:0002463	Language impairment	0	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38			38
HP:0002463	HP:0002463	Language impairment	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0002463	HP:0002463	Language impairment	0	HID1 CL E G H	283987	15736	OMIM:619983
HP:0002463	HP:0002463	Language impairment	0	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13			3
HP:0002463	HP:0002463	Language impairment	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0002463	HP:0002463	Language impairment	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0002463	HP:0002463	Language impairment	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0002463	HP:0002463	Language impairment	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0002463	HP:0002463	Language impairment	0	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional		90
HP:0002463	HP:0002463	Language impairment	0	HNMT CL E G H	3176	5028	OMIM:616739	Mental retardation, autosomal recessive 51			3
HP:0002463	HP:0002463	Language impairment	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional		31
HP:0002463	HP:0002463	Language impairment	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional		5
HP:0002463	HP:0002463	Language impairment	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0002463	HP:0002463	Language impairment	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0002463	HP:0002463	Language impairment	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome			39
HP:0002463	HP:0002463	Language impairment	0	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54			39
HP:0002463	HP:0002463	Language impairment	0	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia			21
HP:0002463	HP:0002463	Language impairment	0	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0002463	HP:0002463	Language impairment	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0002463	HP:0002463	Language impairment	0	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0002463	HP:0002463	Language impairment	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0002463	HP:0002463	Language impairment	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0002463	HP:0002463	Language impairment	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0002463	HP:0002463	Language impairment	0	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome			12
HP:0002463	HP:0002463	Language impairment	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0002463	HP:0002463	Language impairment	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0002463	HP:0002463	Language impairment	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0002463	HP:0002463	Language impairment	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0002463	HP:0002463	Language impairment	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0002463	HP:0002463	Language impairment	0	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0002463	HP:0002463	Language impairment	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0002463	HP:0002463	Language impairment	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0002463	HP:0002463	Language impairment	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0002463	HP:0002463	Language impairment	0	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome			111
HP:0002463	HP:0002463	Language impairment	0	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome			111
HP:0002463	HP:0002463	Language impairment	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0002463	HP:0002463	Language impairment	0	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS			2
HP:0002463	HP:0002463	Language impairment	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0002463	HP:0002463	Language impairment	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0002463	HP:0002463	Language impairment	0	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0002463	HP:0002463	Language impairment	0	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1			119
HP:0002463	HP:0002463	Language impairment	0	IQSEC2 CL E G H	23096	29059	ORPHA:217377	Microduplication Xp11.22p11.23 syndrome			119
HP:0002463	HP:0002463	Language impairment	0	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome			119
HP:0002463	HP:0002463	Language impairment	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0002463	HP:0002463	Language impairment	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040284 - Very rare
HP:0002463	HP:0002463	Language impairment	0	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0002463	HP:0002463	Language impairment	0	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0002463	HP:0002463	Language impairment	0	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate			99
HP:0002463	HP:0002463	Language impairment	0	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4			7
HP:0002463	HP:0002463	Language impairment	0	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29			177
HP:0002463	HP:0002463	Language impairment	0	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29			177
HP:0002463	HP:0002463	Language impairment	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0002463	HP:0002463	Language impairment	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0002463	HP:0002463	Language impairment	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0002463	HP:0002463	Language impairment	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0002463	HP:0002463	Language impairment	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0002463	HP:0002463	Language impairment	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0002463	HP:0002463	Language impairment	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0002463	HP:0002463	Language impairment	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0002463	HP:0002463	Language impairment	0	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0002463	HP:0002463	Language impairment	0	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1			145
HP:0002463	HP:0002463	Language impairment	0	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32			13
HP:0002463	HP:0002463	Language impairment	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0002463	HP:0002463	Language impairment	0	KCNA4 CL E G H	3739	6222	OMIM:618284	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
HP:0002463	HP:0002463	Language impairment	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0002463	HP:0002463	Language impairment	0	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26			65
HP:0002463	HP:0002463	Language impairment	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			65
HP:0002463	HP:0002463	Language impairment	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0002463	HP:0002463	Language impairment	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0002463	HP:0002463	Language impairment	0	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome			121
HP:0002463	HP:0002463	Language impairment	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance			121
HP:0002463	HP:0002463	Language impairment	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0002463	HP:0002463	Language impairment	0	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS			114
HP:0002463	HP:0002463	Language impairment	0	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0002463	HP:0002463	Language impairment	0	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46			5
HP:0002463	HP:0002463	Language impairment	0	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions			106
HP:0002463	HP:0002463	Language impairment	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0002463	HP:0002463	Language impairment	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0002463	HP:0002463	Language impairment	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0002463	HP:0002463	Language impairment	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0002463	HP:0002463	Language impairment	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0002463	HP:0002463	Language impairment	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0002463	HP:0002463	Language impairment	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0002463	HP:0002463	Language impairment	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0002463	HP:0002463	Language impairment	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0002463	HP:0002463	Language impairment	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0002463	HP:0002463	Language impairment	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0002463	HP:0002463	Language impairment	0	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9			276
HP:0002463	HP:0002463	Language impairment	0	KIF4A CL E G H	24137	13339	OMIM:300923	MENTAL RETARDATION, X-LINKED 100; MRX100			5
HP:0002463	HP:0002463	Language impairment	0	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0002463	HP:0002463	Language impairment	0	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103			3
HP:0002463	HP:0002463	Language impairment	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0002463	HP:0002463	Language impairment	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0002463	HP:0002463	Language impairment	0	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset			11
HP:0002463	HP:0002463	Language impairment	0	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2			99
HP:0002463	HP:0002463	Language impairment	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		99
HP:0002463	HP:0002463	Language impairment	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome			1
HP:0002463	HP:0002463	Language impairment	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0002463	HP:0002463	Language impairment	0	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive			112
HP:0002463	HP:0002463	Language impairment	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0002463	HP:0002463	Language impairment	0	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41			13
HP:0002463	HP:0002463	Language impairment	0	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2			5
HP:0002463	HP:0002463	Language impairment	0	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome			134
HP:0002463	HP:0002463	Language impairment	0	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked
HP:0002463	HP:0002463	Language impairment	0	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome			35
HP:0002463	HP:0002463	Language impairment	0	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome			35
HP:0002463	HP:0002463	Language impairment	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0002463	HP:0002463	Language impairment	0	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0002463	HP:0002463	Language impairment	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0002463	HP:0002463	Language impairment	0	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional
HP:0002463	HP:0002463	Language impairment	0	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome			88
HP:0002463	HP:0002463	Language impairment	0	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64
HP:0002463	HP:0002463	Language impairment	0	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27			25
HP:0002463	HP:0002463	Language impairment	0	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities			2
HP:0002463	HP:0002463	Language impairment	0	LMAN2L CL E G H	81562	19263	OMIM:617863				1
HP:0002463	HP:0002463	Language impairment	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0002463	HP:0002463	Language impairment	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0002463	HP:0002463	Language impairment	0	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27			11
HP:0002463	HP:0002463	Language impairment	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0002463	HP:0002463	Language impairment	0	LNPK CL E G H	80856	21610	OMIM:618090	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
HP:0002463	HP:0002463	Language impairment	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0002463	HP:0002463	Language impairment	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0002463	HP:0002463	Language impairment	0	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0002463	HP:0002463	Language impairment	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0002463	HP:0002463	Language impairment	0	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4			2
HP:0002463	HP:0002463	Language impairment	0	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy			92
HP:0002463	HP:0002463	Language impairment	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0002463	HP:0002463	Language impairment	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0002463	HP:0002463	Language impairment	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0002463	HP:0002463	Language impairment	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0002463	HP:0002463	Language impairment	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0002463	HP:0002463	Language impairment	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0002463	HP:0002463	Language impairment	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0002463	HP:0002463	Language impairment	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0002463	HP:0002463	Language impairment	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0002463	HP:0002463	Language impairment	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0002463	HP:0002463	Language impairment	0	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0002463	HP:0002463	Language impairment	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040281 - Very frequent		2
HP:0002463	HP:0002463	Language impairment	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0002463	HP:0002463	Language impairment	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0002463	HP:0002463	Language impairment	0	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia	.		140
HP:0002463	HP:0002463	Language impairment	0	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain	.		140
HP:0002463	HP:0002463	Language impairment	0	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia			140
HP:0002463	HP:0002463	Language impairment	0	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome			140
HP:0002463	HP:0002463	Language impairment	0	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome			252
HP:0002463	HP:0002463	Language impairment	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0002463	HP:0002463	Language impairment	0	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57			5
HP:0002463	HP:0002463	Language impairment	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0002463	HP:0002463	Language impairment	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0002463	HP:0002463	Language impairment	0	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0002463	HP:0002463	Language impairment	0	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV			78
HP:0002463	HP:0002463	Language impairment	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0002463	HP:0002463	Language impairment	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0002463	HP:0002463	Language impairment	0	MECP2 CL E G H	4204	6990	OMIM:300496	Autism susceptibility, X-linked 3			950
HP:0002463	HP:0002463	Language impairment	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0002463	HP:0002463	Language impairment	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0002463	HP:0002463	Language impairment	0	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0002463	HP:0002463	Language impairment	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0002463	HP:0002463	Language impairment	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0002463	HP:0002463	Language impairment	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0002463	HP:0002463	Language impairment	0	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0002463	HP:0002463	Language impairment	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0002463	HP:0002463	Language impairment	0	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18			25
HP:0002463	HP:0002463	Language impairment	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0002463	HP:0002463	Language impairment	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0002463	HP:0002463	Language impairment	0	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome			132
HP:0002463	HP:0002463	Language impairment	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20			132
HP:0002463	HP:0002463	Language impairment	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0002463	HP:0002463	Language impairment	0	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0002463	HP:0002463	Language impairment	0	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0002463	HP:0002463	Language impairment	0	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome			7
HP:0002463	HP:0002463	Language impairment	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0002463	HP:0002463	Language impairment	0	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0002463	HP:0002463	Language impairment	0	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2			17
HP:0002463	HP:0002463	Language impairment	0	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive			5
HP:0002463	HP:0002463	Language impairment	0	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7			120
HP:0002463	HP:0002463	Language impairment	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0002463	HP:0002463	Language impairment	0	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0002463	HP:0002463	Language impairment	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0002463	HP:0002463	Language impairment	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0002463	HP:0002463	Language impairment	0	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0002463	HP:0002463	Language impairment	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0002463	HP:0002463	Language impairment	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0002463	HP:0002463	Language impairment	0	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0002463	HP:0002463	Language impairment	0	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0002463	HP:0002463	Language impairment	0	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF			32
HP:0002463	HP:0002463	Language impairment	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0002463	HP:0002463	Language impairment	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder			532
HP:0002463	HP:0002463	Language impairment	0	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0002463	HP:0002463	Language impairment	0	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0002463	HP:0002463	Language impairment	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0002463	HP:0002463	Language impairment	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0002463	HP:0002463	Language impairment	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0002463	HP:0002463	Language impairment	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0002463	HP:0002463	Language impairment	0	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate			12
HP:0002463	HP:0002463	Language impairment	0	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15			29
HP:0002463	HP:0002463	Language impairment	0	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive			19
HP:0002463	HP:0002463	Language impairment	0	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0002463	HP:0002463	Language impairment	0	MYRF CL E G H	745	1181	OMIM:618113	Encephalitis/encephalopathy, MILD, with reversible myelin vacuolization			2
HP:0002463	HP:0002463	Language impairment	0	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39			13
HP:0002463	HP:0002463	Language impairment	0	NAA15 CL E G H	80155	30782	OMIM:617787	MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50			1
HP:0002463	HP:0002463	Language impairment	0	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination			1
HP:0002463	HP:0002463	Language impairment	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0002463	HP:0002463	Language impairment	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0002463	HP:0002463	Language impairment	0	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0002463	HP:0002463	Language impairment	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0002463	HP:0002463	Language impairment	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0002463	HP:0002463	Language impairment	0	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE			3
HP:0002463	HP:0002463	Language impairment	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0002463	HP:0002463	Language impairment	0	NCAPD2 CL E G H	9918	24305	OMIM:617983	Microcephaly 21, primary, autosomal recessive
HP:0002463	HP:0002463	Language impairment	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0002463	HP:0002463	Language impairment	0	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0002463	HP:0002463	Language impairment	0	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0002463	HP:0002463	Language impairment	0	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0002463	HP:0002463	Language impairment	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0002463	HP:0002463	Language impairment	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0002463	HP:0002463	Language impairment	0	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate			4
HP:0002463	HP:0002463	Language impairment	0	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7			30
HP:0002463	HP:0002463	Language impairment	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0002463	HP:0002463	Language impairment	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0002463	HP:0002463	Language impairment	0	NEMF CL E G H	9147	10663	OMIM:619099	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN			1
HP:0002463	HP:0002463	Language impairment	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0002463	HP:0002463	Language impairment	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy			52
HP:0002463	HP:0002463	Language impairment	0	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type			52
HP:0002463	HP:0002463	Language impairment	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040282 - Frequent		1952
HP:0002463	HP:0002463	Language impairment	0	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome			1952
HP:0002463	HP:0002463	Language impairment	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0002463	HP:0002463	Language impairment	0	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia			20
HP:0002463	HP:0002463	Language impairment	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0002463	HP:0002463	Language impairment	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0002463	HP:0002463	Language impairment	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2			40
HP:0002463	HP:0002463	Language impairment	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0002463	HP:0002463	Language impairment	0	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome			117
HP:0002463	HP:0002463	Language impairment	0	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome			1
HP:0002463	HP:0002463	Language impairment	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0002463	HP:0002463	Language impairment	0	NLGN3 CL E G H	54413	14289	OMIM:300425	Autism susceptibility, X-linked 1			24
HP:0002463	HP:0002463	Language impairment	0	NLGN4X CL E G H	57502	14287	OMIM:300495	Autism, susceptibility to, X-linked 2			57
HP:0002463	HP:0002463	Language impairment	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0002463	HP:0002463	Language impairment	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0002463	HP:0002463	Language impairment	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0002463	HP:0002463	Language impairment	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0002463	HP:0002463	Language impairment	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0002463	HP:0002463	Language impairment	0	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly			45
HP:0002463	HP:0002463	Language impairment	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0002463	HP:0002463	Language impairment	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0002463	HP:0002463	Language impairment	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional		144
HP:0002463	HP:0002463	Language impairment	0	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0002463	HP:0002463	Language impairment	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0002463	HP:0002463	Language impairment	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0002463	HP:0002463	Language impairment	0	NR4A2 CL E G H	4929	7981	OMIM:619911				27
HP:0002463	HP:0002463	Language impairment	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0002463	HP:0002463	Language impairment	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0002463	HP:0002463	Language impairment	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome			34
HP:0002463	HP:0002463	Language impairment	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome			34
HP:0002463	HP:0002463	Language impairment	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0002463	HP:0002463	Language impairment	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0002463	HP:0002463	Language impairment	0	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0002463	HP:0002463	Language impairment	0	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0002463	HP:0002463	Language impairment	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			8
HP:0002463	HP:0002463	Language impairment	0	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0002463	HP:0002463	Language impairment	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0002463	HP:0002463	Language impairment	0	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11			5
HP:0002463	HP:0002463	Language impairment	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0002463	HP:0002463	Language impairment	0	NUS1 CL E G H	116150	21042	OMIM:617831	MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55			1
HP:0002463	HP:0002463	Language impairment	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0002463	HP:0002463	Language impairment	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0002463	HP:0002463	Language impairment	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0002463	HP:0002463	Language impairment	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0002463	HP:0002463	Language impairment	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0002463	HP:0002463	Language impairment	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0002463	HP:0002463	Language impairment	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0002463	HP:0002463	Language impairment	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0002463	HP:0002463	Language impairment	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0002463	HP:0002463	Language impairment	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0002463	HP:0002463	Language impairment	0	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency
HP:0002463	HP:0002463	Language impairment	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0002463	HP:0002463	Language impairment	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0002463	HP:0002463	Language impairment	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0002463	HP:0002463	Language impairment	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0002463	HP:0002463	Language impairment	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0002463	HP:0002463	Language impairment	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0002463	HP:0002463	Language impairment	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0002463	HP:0002463	Language impairment	0	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0002463	HP:0002463	Language impairment	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040282 - Frequent		231
HP:0002463	HP:0002463	Language impairment	0	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0002463	HP:0002463	Language impairment	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0002463	HP:0002463	Language impairment	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0002463	HP:0002463	Language impairment	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			14
HP:0002463	HP:0002463	Language impairment	0	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay			3
HP:0002463	HP:0002463	Language impairment	0	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability			225
HP:0002463	HP:0002463	Language impairment	0	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0002463	HP:0002463	Language impairment	0	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0002463	HP:0002463	Language impairment	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance			113
HP:0002463	HP:0002463	Language impairment	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance			113
HP:0002463	HP:0002463	Language impairment	0	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate			337
HP:0002463	HP:0002463	Language impairment	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0002463	HP:0002463	Language impairment	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0002463	HP:0002463	Language impairment	0	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B			169
HP:0002463	HP:0002463	Language impairment	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0002463	HP:0002463	Language impairment	0	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3			8
HP:0002463	HP:0002463	Language impairment	0	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency			21
HP:0002463	HP:0002463	Language impairment	0	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency			21
HP:0002463	HP:0002463	Language impairment	0	PHF21A CL E G H	51317	24156	OMIM:618725	INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS			2
HP:0002463	HP:0002463	Language impairment	0	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome			23
HP:0002463	HP:0002463	Language impairment	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0002463	HP:0002463	Language impairment	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0002463	HP:0002463	Language impairment	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0002463	HP:0002463	Language impairment	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		11
HP:0002463	HP:0002463	Language impairment	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0002463	HP:0002463	Language impairment	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0002463	HP:0002463	Language impairment	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0002463	HP:0002463	Language impairment	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0002463	HP:0002463	Language impairment	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome			7
HP:0002463	HP:0002463	Language impairment	0	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53			7
HP:0002463	HP:0002463	Language impairment	0	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency			6
HP:0002463	HP:0002463	Language impairment	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0002463	HP:0002463	Language impairment	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0002463	HP:0002463	Language impairment	0	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55			2
HP:0002463	HP:0002463	Language impairment	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0002463	HP:0002463	Language impairment	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0002463	HP:0002463	Language impairment	0	PIGW CL E G H	284098	23213	OMIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11			6
HP:0002463	HP:0002463	Language impairment	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0002463	HP:0002463	Language impairment	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0002463	HP:0002463	Language impairment	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A			133
HP:0002463	HP:0002463	Language impairment	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B			133
HP:0002463	HP:0002463	Language impairment	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0002463	HP:0002463	Language impairment	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0002463	HP:0002463	Language impairment	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0002463	HP:0002463	Language impairment	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0002463	HP:0002463	Language impairment	0	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form			60
HP:0002463	HP:0002463	Language impairment	0	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form			60
HP:0002463	HP:0002463	Language impairment	0	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0002463	HP:0002463	Language impairment	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0002463	HP:0002463	Language impairment	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0002463	HP:0002463	Language impairment	0	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3			7
HP:0002463	HP:0002463	Language impairment	0	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2			7
HP:0002463	HP:0002463	Language impairment	0	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6
HP:0002463	HP:0002463	Language impairment	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0002463	HP:0002463	Language impairment	0	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0002463	HP:0002463	Language impairment	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0002463	HP:0002463	Language impairment	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0002463	HP:0002463	Language impairment	0	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0002463	HP:0002463	Language impairment	0	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0002463	HP:0002463	Language impairment	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0002463	HP:0002463	Language impairment	0	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0002463	HP:0002463	Language impairment	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0002463	HP:0002463	Language impairment	0	POMGNT2 CL E G H	84892	25902	OMIM:618135	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8			33
HP:0002463	HP:0002463	Language impairment	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0002463	HP:0002463	Language impairment	0	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1			213
HP:0002463	HP:0002463	Language impairment	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11			213
HP:0002463	HP:0002463	Language impairment	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0002463	HP:0002463	Language impairment	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0002463	HP:0002463	Language impairment	0	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0002463	HP:0002463	Language impairment	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0002463	HP:0002463	Language impairment	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0002463	HP:0002463	Language impairment	0	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0002463	HP:0002463	Language impairment	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0002463	HP:0002463	Language impairment	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0002463	HP:0002463	Language impairment	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities			2
HP:0002463	HP:0002463	Language impairment	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36			13
HP:0002463	HP:0002463	Language impairment	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome			13
HP:0002463	HP:0002463	Language impairment	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0002463	HP:0002463	Language impairment	0	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35			10
HP:0002463	HP:0002463	Language impairment	0	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1			2
HP:0002463	HP:0002463	Language impairment	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0002463	HP:0002463	Language impairment	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0002463	HP:0002463	Language impairment	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance			134
HP:0002463	HP:0002463	Language impairment	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0002463	HP:0002463	Language impairment	0	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	HP:0040282 - Frequent		2
HP:0002463	HP:0002463	Language impairment	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0002463	HP:0002463	Language impairment	0	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia			7
HP:0002463	HP:0002463	Language impairment	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16			37
HP:0002463	HP:0002463	Language impairment	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures			6
HP:0002463	HP:0002463	Language impairment	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1			69
HP:0002463	HP:0002463	Language impairment	0	PRODH CL E G H	5625	9453	OMIM:239500	Hyperprolinemia, type I			13
HP:0002463	HP:0002463	Language impairment	0	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome			49
HP:0002463	HP:0002463	Language impairment	0	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5	HP:0040283 - Occasional		49
HP:0002463	HP:0002463	Language impairment	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0002463	HP:0002463	Language impairment	0	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies			8
HP:0002463	HP:0002463	Language impairment	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0002463	HP:0002463	Language impairment	0	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		241
HP:0002463	HP:0002463	Language impairment	0	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia	.		241
HP:0002463	HP:0002463	Language impairment	0	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain	.		241
HP:0002463	HP:0002463	Language impairment	0	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia			241
HP:0002463	HP:0002463	Language impairment	0	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		59
HP:0002463	HP:0002463	Language impairment	0	PSMB1 CL E G H	5689	9537	OMIM:620038				2
HP:0002463	HP:0002463	Language impairment	0	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0002463	HP:0002463	Language impairment	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0002463	HP:0002463	Language impairment	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0002463	HP:0002463	Language impairment	0	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0002463	HP:0002463	Language impairment	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0002463	HP:0002463	Language impairment	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0002463	HP:0002463	Language impairment	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0002463	HP:0002463	Language impairment	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0002463	HP:0002463	Language impairment	0	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly			665
HP:0002463	HP:0002463	Language impairment	0	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040282 - Frequent		948
HP:0002463	HP:0002463	Language impairment	0	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency			19
HP:0002463	HP:0002463	Language impairment	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0002463	HP:0002463	Language impairment	0	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47			1
HP:0002463	HP:0002463	Language impairment	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31			53
HP:0002463	HP:0002463	Language impairment	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion			53
HP:0002463	HP:0002463	Language impairment	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0002463	HP:0002463	Language impairment	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0002463	HP:0002463	Language impairment	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0002463	HP:0002463	Language impairment	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0002463	HP:0002463	Language impairment	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0002463	HP:0002463	Language impairment	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10			11
HP:0002463	HP:0002463	Language impairment	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0002463	HP:0002463	Language impairment	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0002463	HP:0002463	Language impairment	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0002463	HP:0002463	Language impairment	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0002463	HP:0002463	Language impairment	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0002463	HP:0002463	Language impairment	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0002463	HP:0002463	Language impairment	0	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0002463	HP:0002463	Language impairment	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0002463	HP:0002463	Language impairment	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0002463	HP:0002463	Language impairment	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0002463	HP:0002463	Language impairment	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0002463	HP:0002463	Language impairment	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0002463	HP:0002463	Language impairment	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0002463	HP:0002463	Language impairment	0	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0002463	HP:0002463	Language impairment	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0002463	HP:0002463	Language impairment	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0002463	HP:0002463	Language impairment	0	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7
HP:0002463	HP:0002463	Language impairment	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0002463	HP:0002463	Language impairment	0	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0002463	HP:0002463	Language impairment	0	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64			1
HP:0002463	HP:0002463	Language impairment	0	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS			2
HP:0002463	HP:0002463	Language impairment	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome			7
HP:0002463	HP:0002463	Language impairment	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0002463	HP:0002463	Language impairment	0	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly			37
HP:0002463	HP:0002463	Language impairment	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome			5
HP:0002463	HP:0002463	Language impairment	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002463	HP:0002463	Language impairment	0	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0002463	HP:0002463	Language impairment	0	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15			3
HP:0002463	HP:0002463	Language impairment	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0002463	HP:0002463	Language impairment	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0002463	HP:0002463	Language impairment	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0002463	HP:0002463	Language impairment	0	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19			65
HP:0002463	HP:0002463	Language impairment	0	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0002463	HP:0002463	Language impairment	0	RRP7A CL E G H	27341	24286	OMIM:619453	MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE; MCPH28
HP:0002463	HP:0002463	Language impairment	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0002463	HP:0002463	Language impairment	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0002463	HP:0002463	Language impairment	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0002463	HP:0002463	Language impairment	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0002463	HP:0002463	Language impairment	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0002463	HP:0002463	Language impairment	0	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70			2
HP:0002463	HP:0002463	Language impairment	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0002463	HP:0002463	Language impairment	0	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0002463	HP:0002463	Language impairment	0	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0002463	HP:0002463	Language impairment	0	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures			113
HP:0002463	HP:0002463	Language impairment	0	RUBCN CL E G H	9711	28991	ORPHA:404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency			9
HP:0002463	HP:0002463	Language impairment	0	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0002463	HP:0002463	Language impairment	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0002463	HP:0002463	Language impairment	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0002463	HP:0002463	Language impairment	0	SATB1 CL E G H	6304	10541	OMIM:619228	DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA
HP:0002463	HP:0002463	Language impairment	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0002463	HP:0002463	Language impairment	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome			34
HP:0002463	HP:0002463	Language impairment	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0002463	HP:0002463	Language impairment	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0002463	HP:0002463	Language impairment	0	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant			34
HP:0002463	HP:0002463	Language impairment	0	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0002463	HP:0002463	Language impairment	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy			1053
HP:0002463	HP:0002463	Language impairment	0	SCN3A CL E G H	6328	10590	OMIM:617935	Epilepsy, familial focal, with variable foci 4			70
HP:0002463	HP:0002463	Language impairment	0	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62			70
HP:0002463	HP:0002463	Language impairment	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			70
HP:0002463	HP:0002463	Language impairment	0	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0002463	HP:0002463	Language impairment	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			357
HP:0002463	HP:0002463	Language impairment	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0002463	HP:0002463	Language impairment	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0002463	HP:0002463	Language impairment	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0002463	HP:0002463	Language impairment	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0002463	HP:0002463	Language impairment	0	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0002463	HP:0002463	Language impairment	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0002463	HP:0002463	Language impairment	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia			2
HP:0002463	HP:0002463	Language impairment	0	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0002463	HP:0002463	Language impairment	0	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0002463	HP:0002463	Language impairment	0	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome			47
HP:0002463	HP:0002463	Language impairment	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0002463	HP:0002463	Language impairment	0	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome			143
HP:0002463	HP:0002463	Language impairment	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0002463	HP:0002463	Language impairment	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0002463	HP:0002463	Language impairment	0	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0002463	HP:0002463	Language impairment	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0002463	HP:0002463	Language impairment	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0002463	HP:0002463	Language impairment	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0002463	HP:0002463	Language impairment	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0002463	HP:0002463	Language impairment	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0002463	HP:0002463	Language impairment	0	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18			17
HP:0002463	HP:0002463	Language impairment	0	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4			113
HP:0002463	HP:0002463	Language impairment	0	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0002463	HP:0002463	Language impairment	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0002463	HP:0002463	Language impairment	0	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
HP:0002463	HP:0002463	Language impairment	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0002463	HP:0002463	Language impairment	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0002463	HP:0002463	Language impairment	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0002463	HP:0002463	Language impairment	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0002463	HP:0002463	Language impairment	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0002463	HP:0002463	Language impairment	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0002463	HP:0002463	Language impairment	0	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly			67
HP:0002463	HP:0002463	Language impairment	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0002463	HP:0002463	Language impairment	0	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0002463	HP:0002463	Language impairment	0	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type			42
HP:0002463	HP:0002463	Language impairment	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0002463	HP:0002463	Language impairment	0	SIK1 CL E G H	150094	11142	OMIM:616341	Deafness, autosomal dominant 67			11
HP:0002463	HP:0002463	Language impairment	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0002463	HP:0002463	Language impairment	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome			40
HP:0002463	HP:0002463	Language impairment	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0002463	HP:0002463	Language impairment	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0002463	HP:0002463	Language impairment	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0002463	HP:0002463	Language impairment	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0002463	HP:0002463	Language impairment	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0002463	HP:0002463	Language impairment	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0002463	HP:0002463	Language impairment	0	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0002463	HP:0002463	Language impairment	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0002463	HP:0002463	Language impairment	0	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0002463	HP:0002463	Language impairment	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0002463	HP:0002463	Language impairment	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0002463	HP:0002463	Language impairment	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			73
HP:0002463	HP:0002463	Language impairment	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0002463	HP:0002463	Language impairment	0	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease			78
HP:0002463	HP:0002463	Language impairment	0	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41			3
HP:0002463	HP:0002463	Language impairment	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0002463	HP:0002463	Language impairment	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0002463	HP:0002463	Language impairment	0	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0002463	HP:0002463	Language impairment	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0002463	HP:0002463	Language impairment	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0002463	HP:0002463	Language impairment	0	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression			1
HP:0002463	HP:0002463	Language impairment	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0002463	HP:0002463	Language impairment	0	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome			255
HP:0002463	HP:0002463	Language impairment	0	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1			255
HP:0002463	HP:0002463	Language impairment	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy			255
HP:0002463	HP:0002463	Language impairment	0	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects			255
HP:0002463	HP:0002463	Language impairment	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0002463	HP:0002463	Language impairment	0	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration			48
HP:0002463	HP:0002463	Language impairment	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0002463	HP:0002463	Language impairment	0	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0002463	HP:0002463	Language impairment	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0002463	HP:0002463	Language impairment	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0002463	HP:0002463	Language impairment	0	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0002463	HP:0002463	Language impairment	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy			29
HP:0002463	HP:0002463	Language impairment	0	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48			12
HP:0002463	HP:0002463	Language impairment	0	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism			13
HP:0002463	HP:0002463	Language impairment	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0002463	HP:0002463	Language impairment	0	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency			122
HP:0002463	HP:0002463	Language impairment	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0002463	HP:0002463	Language impairment	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0002463	HP:0002463	Language impairment	0	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0002463	HP:0002463	Language impairment	0	SMAD6 CL E G H	4091	6772	OMIM:617439	Craniosynostosis 7			33
HP:0002463	HP:0002463	Language impairment	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0002463	HP:0002463	Language impairment	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0002463	HP:0002463	Language impairment	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0002463	HP:0002463	Language impairment	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0002463	HP:0002463	Language impairment	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0002463	HP:0002463	Language impairment	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0002463	HP:0002463	Language impairment	0	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8			1
HP:0002463	HP:0002463	Language impairment	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0002463	HP:0002463	Language impairment	0	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0002463	HP:0002463	Language impairment	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0002463	HP:0002463	Language impairment	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0002463	HP:0002463	Language impairment	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0002463	HP:0002463	Language impairment	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0002463	HP:0002463	Language impairment	0	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0002463	HP:0002463	Language impairment	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0002463	HP:0002463	Language impairment	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0002463	HP:0002463	Language impairment	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0002463	HP:0002463	Language impairment	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0002463	HP:0002463	Language impairment	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0002463	HP:0002463	Language impairment	0	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			37
HP:0002463	HP:0002463	Language impairment	0	SNRPN CL E G H	6638	11164	OMIM:209850	Autism susceptibility 1			37
HP:0002463	HP:0002463	Language impairment	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0002463	HP:0002463	Language impairment	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0002463	HP:0002463	Language impairment	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0002463	HP:0002463	Language impairment	0	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus			29
HP:0002463	HP:0002463	Language impairment	0	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0002463	HP:0002463	Language impairment	0	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		3
HP:0002463	HP:0002463	Language impairment	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0002463	HP:0002463	Language impairment	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0002463	HP:0002463	Language impairment	0	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency			11
HP:0002463	HP:0002463	Language impairment	0	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome			11
HP:0002463	HP:0002463	Language impairment	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0002463	HP:0002463	Language impairment	0	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII			2
HP:0002463	HP:0002463	Language impairment	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20			66
HP:0002463	HP:0002463	Language impairment	0	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0002463	HP:0002463	Language impairment	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0002463	HP:0002463	Language impairment	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0002463	HP:0002463	Language impairment	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0002463	HP:0002463	Language impairment	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0002463	HP:0002463	Language impairment	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0002463	HP:0002463	Language impairment	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0002463	HP:0002463	Language impairment	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0002463	HP:0002463	Language impairment	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040284 - Very rare
HP:0002463	HP:0002463	Language impairment	0	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency			28
HP:0002463	HP:0002463	Language impairment	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0002463	HP:0002463	Language impairment	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002463	HP:0002463	Language impairment	0	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia			126
HP:0002463	HP:0002463	Language impairment	0	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14			126
HP:0002463	HP:0002463	Language impairment	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0002463	HP:0002463	Language impairment	0	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	.		62
HP:0002463	HP:0002463	Language impairment	0	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0002463	HP:0002463	Language impairment	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0002463	HP:0002463	Language impairment	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0002463	HP:0002463	Language impairment	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		50
HP:0002463	HP:0002463	Language impairment	0	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome			50
HP:0002463	HP:0002463	Language impairment	0	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome			47
HP:0002463	HP:0002463	Language impairment	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0002463	HP:0002463	Language impairment	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0002463	HP:0002463	Language impairment	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0002463	HP:0002463	Language impairment	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0002463	HP:0002463	Language impairment	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040284 - Very rare		2
HP:0002463	HP:0002463	Language impairment	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0002463	HP:0002463	Language impairment	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0002463	HP:0002463	Language impairment	0	STIL CL E G H	6491	10879	OMIM:612703	Microcephaly 7, primary, autosomal recessive			99
HP:0002463	HP:0002463	Language impairment	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0002463	HP:0002463	Language impairment	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0002463	HP:0002463	Language impairment	0	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly			99
HP:0002463	HP:0002463	Language impairment	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0002463	HP:0002463	Language impairment	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0002463	HP:0002463	Language impairment	0	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome			6
HP:0002463	HP:0002463	Language impairment	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0002463	HP:0002463	Language impairment	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0002463	HP:0002463	Language impairment	0	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4			237
HP:0002463	HP:0002463	Language impairment	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0002463	HP:0002463	Language impairment	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0002463	HP:0002463	Language impairment	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0002463	HP:0002463	Language impairment	0	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5	.		108
HP:0002463	HP:0002463	Language impairment	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy			108
HP:0002463	HP:0002463	Language impairment	0	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			108
HP:0002463	HP:0002463	Language impairment	0	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy			108
HP:0002463	HP:0002463	Language impairment	0	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			9
HP:0002463	HP:0002463	Language impairment	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0002463	HP:0002463	Language impairment	0	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			123
HP:0002463	HP:0002463	Language impairment	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0002463	HP:0002463	Language impairment	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0002463	HP:0002463	Language impairment	0	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40			7
HP:0002463	HP:0002463	Language impairment	0	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome			7
HP:0002463	HP:0002463	Language impairment	0	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0002463	HP:0002463	Language impairment	0	TANC2 CL E G H	26115	30212	OMIM:618906	INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0002463	HP:0002463	Language impairment	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0002463	HP:0002463	Language impairment	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0002463	HP:0002463	Language impairment	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0002463	HP:0002463	Language impairment	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0002463	HP:0002463	Language impairment	0	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0002463	HP:0002463	Language impairment	0	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy			271
HP:0002463	HP:0002463	Language impairment	0	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive			4
HP:0002463	HP:0002463	Language impairment	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0002463	HP:0002463	Language impairment	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0002463	HP:0002463	Language impairment	0	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO			52
HP:0002463	HP:0002463	Language impairment	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0002463	HP:0002463	Language impairment	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0002463	HP:0002463	Language impairment	0	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	.		20
HP:0002463	HP:0002463	Language impairment	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0002463	HP:0002463	Language impairment	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0002463	HP:0002463	Language impairment	0	TBR1 CL E G H	10716	11590	OMIM:606053	Intellectual developmental disorder with autism and speech delay			1
HP:0002463	HP:0002463	Language impairment	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome			32
HP:0002463	HP:0002463	Language impairment	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0002463	HP:0002463	Language impairment	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0002463	HP:0002463	Language impairment	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0002463	HP:0002463	Language impairment	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0002463	HP:0002463	Language impairment	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0002463	HP:0002463	Language impairment	0	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24			76
HP:0002463	HP:0002463	Language impairment	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0002463	HP:0002463	Language impairment	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0002463	HP:0002463	Language impairment	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0002463	HP:0002463	Language impairment	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0002463	HP:0002463	Language impairment	0	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly			1
HP:0002463	HP:0002463	Language impairment	0	TECR CL E G H	9524	4551	OMIM:614020	Mental retardation, autosomal recessive 14			17
HP:0002463	HP:0002463	Language impairment	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0002463	HP:0002463	Language impairment	0	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome			12
HP:0002463	HP:0002463	Language impairment	0	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9			12
HP:0002463	HP:0002463	Language impairment	0	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0002463	HP:0002463	Language impairment	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0002463	HP:0002463	Language impairment	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002463	HP:0002463	Language impairment	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0002463	HP:0002463	Language impairment	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0002463	HP:0002463	Language impairment	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0002463	HP:0002463	Language impairment	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0002463	HP:0002463	Language impairment	0	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0002463	HP:0002463	Language impairment	0	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			80
HP:0002463	HP:0002463	Language impairment	0	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive			80
HP:0002463	HP:0002463	Language impairment	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0002463	HP:0002463	Language impairment	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome			5
HP:0002463	HP:0002463	Language impairment	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0002463	HP:0002463	Language impairment	0	THRB CL E G H	7068	11799	OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant			161
HP:0002463	HP:0002463	Language impairment	0	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0002463	HP:0002463	Language impairment	0	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0002463	HP:0002463	Language impairment	0	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9			1
HP:0002463	HP:0002463	Language impairment	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0002463	HP:0002463	Language impairment	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3			60
HP:0002463	HP:0002463	Language impairment	0	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0002463	HP:0002463	Language impairment	0	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects			4
HP:0002463	HP:0002463	Language impairment	0	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0002463	HP:0002463	Language impairment	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0002463	HP:0002463	Language impairment	0	TM4SF20 CL E G H	79853	26230	OMIM:615432	SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5			3
HP:0002463	HP:0002463	Language impairment	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0002463	HP:0002463	Language impairment	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0002463	HP:0002463	Language impairment	0	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia
HP:0002463	HP:0002463	Language impairment	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0002463	HP:0002463	Language impairment	0	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0002463	HP:0002463	Language impairment	0	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20			33
HP:0002463	HP:0002463	Language impairment	0	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0002463	HP:0002463	Language impairment	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0002463	HP:0002463	Language impairment	0	TMLHE CL E G H	55217	18308	OMIM:300872	Autism, susceptibility to, X-linked 6			10
HP:0002463	HP:0002463	Language impairment	0	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8			5
HP:0002463	HP:0002463	Language impairment	0	TNIK CL E G H	23043	30765	OMIM:617028	Mental retardation, autosomal recessive 54			2
HP:0002463	HP:0002463	Language impairment	0	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0002463	HP:0002463	Language impairment	0	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO			7
HP:0002463	HP:0002463	Language impairment	0	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0002463	HP:0002463	Language impairment	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0002463	HP:0002463	Language impairment	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0002463	HP:0002463	Language impairment	0	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent
HP:0002463	HP:0002463	Language impairment	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0002463	HP:0002463	Language impairment	0	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4
HP:0002463	HP:0002463	Language impairment	0	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate			140
HP:0002463	HP:0002463	Language impairment	0	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0002463	HP:0002463	Language impairment	0	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2			203
HP:0002463	HP:0002463	Language impairment	0	TPRN CL E G H	286262	26894	OMIM:613307	Deafness, autosomal recessive 79			32
HP:0002463	HP:0002463	Language impairment	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0002463	HP:0002463	Language impairment	0	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0002463	HP:0002463	Language impairment	0	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0002463	HP:0002463	Language impairment	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18			27
HP:0002463	HP:0002463	Language impairment	0	TRAPPC14 CL E G H	55262	25604	OMIM:618351	Microcephaly 25, primary, autosomal recessive
HP:0002463	HP:0002463	Language impairment	0	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0002463	HP:0002463	Language impairment	0	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0002463	HP:0002463	Language impairment	0	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0002463	HP:0002463	Language impairment	0	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		31
HP:0002463	HP:0002463	Language impairment	0	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia			31
HP:0002463	HP:0002463	Language impairment	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0002463	HP:0002463	Language impairment	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0002463	HP:0002463	Language impairment	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0002463	HP:0002463	Language impairment	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0002463	HP:0002463	Language impairment	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0002463	HP:0002463	Language impairment	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0002463	HP:0002463	Language impairment	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome			4
HP:0002463	HP:0002463	Language impairment	0	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35			12
HP:0002463	HP:0002463	Language impairment	0	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68			1
HP:0002463	HP:0002463	Language impairment	0	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal			4
HP:0002463	HP:0002463	Language impairment	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0002463	HP:0002463	Language impairment	0	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F			3
HP:0002463	HP:0002463	Language impairment	0	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune			97
HP:0002463	HP:0002463	Language impairment	0	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58			26
HP:0002463	HP:0002463	Language impairment	0	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			2
HP:0002463	HP:0002463	Language impairment	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0002463	HP:0002463	Language impairment	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0002463	HP:0002463	Language impairment	0	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0002463	HP:0002463	Language impairment	0	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome			11
HP:0002463	HP:0002463	Language impairment	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0002463	HP:0002463	Language impairment	0	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia			21
HP:0002463	HP:0002463	Language impairment	0	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6			14
HP:0002463	HP:0002463	Language impairment	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1			14
HP:0002463	HP:0002463	Language impairment	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0002463	HP:0002463	Language impairment	0	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1			64
HP:0002463	HP:0002463	Language impairment	0	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6			66
HP:0002463	HP:0002463	Language impairment	0	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome			14
HP:0002463	HP:0002463	Language impairment	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0002463	HP:0002463	Language impairment	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0002463	HP:0002463	Language impairment	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0002463	HP:0002463	Language impairment	0	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0002463	HP:0002463	Language impairment	0	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44			13
HP:0002463	HP:0002463	Language impairment	0	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0002463	HP:0002463	Language impairment	0	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum
HP:0002463	HP:0002463	Language impairment	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0002463	HP:0002463	Language impairment	0	UBE3A CL E G H	7337	12496	ORPHA:238446	15q11q13 microduplication syndrome			278
HP:0002463	HP:0002463	Language impairment	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0002463	HP:0002463	Language impairment	0	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			278
HP:0002463	HP:0002463	Language impairment	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0002463	HP:0002463	Language impairment	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0002463	HP:0002463	Language impairment	0	UBE4A CL E G H	9354	12499	OMIM:619639	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS			1
HP:0002463	HP:0002463	Language impairment	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0002463	HP:0002463	Language impairment	0	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder			1
HP:0002463	HP:0002463	Language impairment	0	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth
HP:0002463	HP:0002463	Language impairment	0	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14
HP:0002463	HP:0002463	Language impairment	0	UFSP2 CL E G H	55325	25640	OMIM:620028				2
HP:0002463	HP:0002463	Language impairment	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0002463	HP:0002463	Language impairment	0	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1			73
HP:0002463	HP:0002463	Language impairment	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0002463	HP:0002463	Language impairment	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0002463	HP:0002463	Language impairment	0	UQCRQ CL E G H	27089	29594	OMIM:615159	Mitochondrial complex III deficiency, nuclear type 4			34
HP:0002463	HP:0002463	Language impairment	0	USP27X CL E G H	389856	13486	OMIM:300984	MENTAL RETARDATION, X-LINKED 105; MRX105			3
HP:0002463	HP:0002463	Language impairment	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0002463	HP:0002463	Language impairment	0	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0002463	HP:0002463	Language impairment	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0002463	HP:0002463	Language impairment	0	VAC14 CL E G H	55697	25507	OMIM:617054	Striatonigral degeneration, childhood-onset			6
HP:0002463	HP:0002463	Language impairment	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0002463	HP:0002463	Language impairment	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional		63
HP:0002463	HP:0002463	Language impairment	0	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia			63
HP:0002463	HP:0002463	Language impairment	0	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1			111
HP:0002463	HP:0002463	Language impairment	0	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0002463	HP:0002463	Language impairment	0	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy			1
HP:0002463	HP:0002463	Language impairment	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0002463	HP:0002463	Language impairment	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0002463	HP:0002463	Language impairment	0	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53			7
HP:0002463	HP:0002463	Language impairment	0	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53			7
HP:0002463	HP:0002463	Language impairment	0	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0002463	HP:0002463	Language impairment	0	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0002463	HP:0002463	Language impairment	0	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0002463	HP:0002463	Language impairment	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0002463	HP:0002463	Language impairment	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0002463	HP:0002463	Language impairment	0	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0002463	HP:0002463	Language impairment	0	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3			2
HP:0002463	HP:0002463	Language impairment	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0002463	HP:0002463	Language impairment	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0002463	HP:0002463	Language impairment	0	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0002463	HP:0002463	Language impairment	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0002463	HP:0002463	Language impairment	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0002463	HP:0002463	Language impairment	0	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0002463	HP:0002463	Language impairment	0	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0002463	HP:0002463	Language impairment	0	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0002463	HP:0002463	Language impairment	0	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5			51
HP:0002463	HP:0002463	Language impairment	0	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures			1
HP:0002463	HP:0002463	Language impairment	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0002463	HP:0002463	Language impairment	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0002463	HP:0002463	Language impairment	0	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2			27
HP:0002463	HP:0002463	Language impairment	0	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0002463	HP:0002463	Language impairment	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0002463	HP:0002463	Language impairment	0	WWOX CL E G H	51741	12799	ORPHA:284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency			149
HP:0002463	HP:0002463	Language impairment	0	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			149
HP:0002463	HP:0002463	Language impairment	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0002463	HP:0002463	Language impairment	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0002463	HP:0002463	Language impairment	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002463	HP:0002463	Language impairment	0	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0002463	HP:0002463	Language impairment	0	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11			2
HP:0002463	HP:0002463	Language impairment	0	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0002463	HP:0002463	Language impairment	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0002463	HP:0002463	Language impairment	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0002463	HP:0002463	Language impairment	0	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69
HP:0002463	HP:0002463	Language impairment	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0002463	HP:0002463	Language impairment	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0002463	HP:0002463	Language impairment	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0002463	HP:0002463	Language impairment	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0002463	HP:0002463	Language impairment	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0002463	HP:0002463	Language impairment	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0002463	HP:0002463	Language impairment	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0002463	HP:0002463	Language impairment	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0002463	HP:0002463	Language impairment	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0002463	HP:0002463	Language impairment	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0002463	HP:0002463	Language impairment	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0002463	HP:0002463	Language impairment	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0002463	HP:0002463	Language impairment	0	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly			34
HP:0002463	HP:0002463	Language impairment	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0002463	HP:0002463	Language impairment	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0002463	HP:0002463	Language impairment	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0002463	HP:0002463	Language impairment	0	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30			24
HP:0002463	HP:0002463	Language impairment	0	ZNF142 CL E G H	7701	12927	OMIM:618425	Neurodevelopmental disorder with impaired speech and hyperkinetic movements
HP:0002463	HP:0002463	Language impairment	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0002463	HP:0002463	Language impairment	0	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0002463	HP:0002463	Language impairment	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0002463	HP:0002463	Language impairment	0	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0002463	HP:0002463	Language impairment	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features			5
HP:0002463	HP:0000750	Delayed speech and language development	1	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040282 - Frequent		15
HP:0002463	HP:0000750	Delayed speech and language development	1	AASS CL E G H	10157	17366	OMIM:238700	Hyperlysinemia, type I	.		15
HP:0002463	HP:0000750	Delayed speech and language development	1	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0002463	HP:0000750	Delayed speech and language development	1	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		58
HP:0002463	HP:0000750	Delayed speech and language development	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		197
HP:0002463	HP:0000750	Delayed speech and language development	1	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of	.		90
HP:0002463	HP:0000750	Delayed speech and language development	1	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		90
HP:0002463	HP:0000750	Delayed speech and language development	1	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0002463	HP:0000750	Delayed speech and language development	1	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0002463	HP:0000750	Delayed speech and language development	1	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6	.		2
HP:0002463	HP:0000750	Delayed speech and language development	1	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040283 - Occasional		68
HP:0002463	HP:0000750	Delayed speech and language development	1	ACSL4 CL E G H	2182	3571	OMIM:300387	MENTAL RETARDATION, X-LINKED 63; MRX63			19
HP:0002463	HP:0000750	Delayed speech and language development	1	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76			2
HP:0002463	HP:0000750	Delayed speech and language development	1	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects			2
HP:0002463	HP:0000750	Delayed speech and language development	1	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		2
HP:0002463	HP:0000750	Delayed speech and language development	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent		116
HP:0002463	HP:0000750	Delayed speech and language development	1	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0002463	HP:0000750	Delayed speech and language development	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040282 - Frequent		9
HP:0002463	HP:0000750	Delayed speech and language development	1	ADCY5 CL E G H	111	236	OMIM:619647	DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR			25
HP:0002463	HP:0000750	Delayed speech and language development	1	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0002463	HP:0000750	Delayed speech and language development	1	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3			3
HP:0002463	HP:0000750	Delayed speech and language development	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		88
HP:0002463	HP:0000750	Delayed speech and language development	1	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0002463	HP:0000750	Delayed speech and language development	1	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	.		26
HP:0002463	HP:0000750	Delayed speech and language development	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040281 - Very frequent		47
HP:0002463	HP:0000750	Delayed speech and language development	1	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.		118
HP:0002463	HP:0000750	Delayed speech and language development	1	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency			118
HP:0002463	HP:0000750	Delayed speech and language development	1	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability	HP:0040282 - Frequent		59
HP:0002463	HP:0000750	Delayed speech and language development	1	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe			59
HP:0002463	HP:0000750	Delayed speech and language development	1	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040281 - Very frequent		76
HP:0002463	HP:0000750	Delayed speech and language development	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.		76
HP:0002463	HP:0000750	Delayed speech and language development	1	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0002463	HP:0000750	Delayed speech and language development	1	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0002463	HP:0000750	Delayed speech and language development	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040281 - Very frequent		36
HP:0002463	HP:0000750	Delayed speech and language development	1	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0002463	HP:0000750	Delayed speech and language development	1	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040281 - Very frequent		60
HP:0002463	HP:0000750	Delayed speech and language development	1	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17			1
HP:0002463	HP:0000750	Delayed speech and language development	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040283 - Occasional		89
HP:0002463	HP:0000750	Delayed speech and language development	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive			89
HP:0002463	HP:0000750	Delayed speech and language development	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040282 - Frequent		74
HP:0002463	HP:0000750	Delayed speech and language development	1	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency			108
HP:0002463	HP:0000750	Delayed speech and language development	1	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent	.		227
HP:0002463	HP:0000750	Delayed speech and language development	1	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency	HP:0040283 - Occasional		50
HP:0002463	HP:0000750	Delayed speech and language development	1	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip			41
HP:0002463	HP:0000750	Delayed speech and language development	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent		68
HP:0002463	HP:0000750	Delayed speech and language development	1	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG	HP:0040283 - Occasional		96
HP:0002463	HP:0000750	Delayed speech and language development	1	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF			12
HP:0002463	HP:0000750	Delayed speech and language development	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0002463	HP:0000750	Delayed speech and language development	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0002463	HP:0000750	Delayed speech and language development	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0002463	HP:0000750	Delayed speech and language development	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0002463	HP:0000750	Delayed speech and language development	1	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional		25
HP:0002463	HP:0000750	Delayed speech and language development	1	ANK3 CL E G H	288	494	ORPHA:356996	ANK3-related intellectual disability-sleep disturbance syndrome	HP:0040282 - Frequent		176
HP:0002463	HP:0000750	Delayed speech and language development	1	ANK3 CL E G H	288	494	OMIM:615493	Mental retardation, autosomal recessive 37			176
HP:0002463	HP:0000750	Delayed speech and language development	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional		102
HP:0002463	HP:0000750	Delayed speech and language development	1	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0002463	HP:0000750	Delayed speech and language development	1	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0002463	HP:0000750	Delayed speech and language development	1	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0002463	HP:0000750	Delayed speech and language development	1	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare
HP:0002463	HP:0000750	Delayed speech and language development	1	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48			7
HP:0002463	HP:0000750	Delayed speech and language development	1	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		7
HP:0002463	HP:0000750	Delayed speech and language development	1	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.		49
HP:0002463	HP:0000750	Delayed speech and language development	1	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10			1
HP:0002463	HP:0000750	Delayed speech and language development	1	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3			1
HP:0002463	HP:0000750	Delayed speech and language development	1	ARF1 CL E G H	375	652	OMIM:618185	Periventricular nodular heterotopia 8	.
HP:0002463	HP:0000750	Delayed speech and language development	1	ARFGEF1 CL E G H	10565	15772	OMIM:619964
HP:0002463	HP:0000750	Delayed speech and language development	1	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		6
HP:0002463	HP:0000750	Delayed speech and language development	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0002463	HP:0000750	Delayed speech and language development	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0002463	HP:0000750	Delayed speech and language development	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2	.		88
HP:0002463	HP:0000750	Delayed speech and language development	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0002463	HP:0000750	Delayed speech and language development	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0002463	HP:0000750	Delayed speech and language development	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0002463	HP:0000750	Delayed speech and language development	1	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6	.		25
HP:0002463	HP:0000750	Delayed speech and language development	1	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0002463	HP:0000750	Delayed speech and language development	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.		29
HP:0002463	HP:0000750	Delayed speech and language development	1	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0002463	HP:0000750	Delayed speech and language development	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0002463	HP:0000750	Delayed speech and language development	1	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0002463	HP:0000750	Delayed speech and language development	1	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome	HP:0040283 - Occasional		166
HP:0002463	HP:0000750	Delayed speech and language development	1	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome	.		166
HP:0002463	HP:0000750	Delayed speech and language development	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0002463	HP:0000750	Delayed speech and language development	1	ASPA CL E G H	443	756	ORPHA:314918	Mild Canavan disease	HP:0040283 - Occasional		48
HP:0002463	HP:0000750	Delayed speech and language development	1	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease			48
HP:0002463	HP:0000750	Delayed speech and language development	1	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive	.		512
HP:0002463	HP:0000750	Delayed speech and language development	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0002463	HP:0000750	Delayed speech and language development	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.		7
HP:0002463	HP:0000750	Delayed speech and language development	1	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome			49
HP:0002463	HP:0000750	Delayed speech and language development	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0002463	HP:0000750	Delayed speech and language development	1	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.		5
HP:0002463	HP:0000750	Delayed speech and language development	1	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0002463	HP:0000750	Delayed speech and language development	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0002463	HP:0000750	Delayed speech and language development	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0002463	HP:0000750	Delayed speech and language development	1	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			4
HP:0002463	HP:0000750	Delayed speech and language development	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		239
HP:0002463	HP:0000750	Delayed speech and language development	1	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98			239
HP:0002463	HP:0000750	Delayed speech and language development	1	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		239
HP:0002463	HP:0000750	Delayed speech and language development	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		150
HP:0002463	HP:0000750	Delayed speech and language development	1	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		150
HP:0002463	HP:0000750	Delayed speech and language development	1	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5	.
HP:0002463	HP:0000750	Delayed speech and language development	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH			36
HP:0002463	HP:0000750	Delayed speech and language development	1	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040282 - Frequent		36
HP:0002463	HP:0000750	Delayed speech and language development	1	ATP6V0A1 CL E G H	535	865	OMIM:619970				1
HP:0002463	HP:0000750	Delayed speech and language development	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		140
HP:0002463	HP:0000750	Delayed speech and language development	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent		140
HP:0002463	HP:0000750	Delayed speech and language development	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.		140
HP:0002463	HP:0000750	Delayed speech and language development	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		3
HP:0002463	HP:0000750	Delayed speech and language development	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.		3
HP:0002463	HP:0000750	Delayed speech and language development	1	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3			3
HP:0002463	HP:0000750	Delayed speech and language development	1	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0002463	HP:0000750	Delayed speech and language development	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		2
HP:0002463	HP:0000750	Delayed speech and language development	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040282 - Frequent		14
HP:0002463	HP:0000750	Delayed speech and language development	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040282 - Frequent		14
HP:0002463	HP:0000750	Delayed speech and language development	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent		14
HP:0002463	HP:0000750	Delayed speech and language development	1	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1	HP:0040282 - Frequent		49
HP:0002463	HP:0000750	Delayed speech and language development	1	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0002463	HP:0000750	Delayed speech and language development	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040281 - Very frequent		61
HP:0002463	HP:0000750	Delayed speech and language development	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.		61
HP:0002463	HP:0000750	Delayed speech and language development	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional		38
HP:0002463	HP:0000750	Delayed speech and language development	1	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0002463	HP:0000750	Delayed speech and language development	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.		114
HP:0002463	HP:0000750	Delayed speech and language development	1	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0002463	HP:0000750	Delayed speech and language development	1	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0002463	HP:0000750	Delayed speech and language development	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49			3
HP:0002463	HP:0000750	Delayed speech and language development	1	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.		3
HP:0002463	HP:0000750	Delayed speech and language development	1	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome	.		17
HP:0002463	HP:0000750	Delayed speech and language development	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		99
HP:0002463	HP:0000750	Delayed speech and language development	1	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0002463	HP:0000750	Delayed speech and language development	1	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		38
HP:0002463	HP:0000750	Delayed speech and language development	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0002463	HP:0000750	Delayed speech and language development	1	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D			90
HP:0002463	HP:0000750	Delayed speech and language development	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040281 - Very frequent		2
HP:0002463	HP:0000750	Delayed speech and language development	1	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0002463	HP:0000750	Delayed speech and language development	1	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.		20
HP:0002463	HP:0000750	Delayed speech and language development	1	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.		5769
HP:0002463	HP:0000750	Delayed speech and language development	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0002463	HP:0000750	Delayed speech and language development	1	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.		10
HP:0002463	HP:0000750	Delayed speech and language development	1	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93			104
HP:0002463	HP:0000750	Delayed speech and language development	1	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy	.		105
HP:0002463	HP:0000750	Delayed speech and language development	1	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040282 - Frequent		105
HP:0002463	HP:0000750	Delayed speech and language development	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked	.		109
HP:0002463	HP:0000750	Delayed speech and language development	1	C12ORF4 CL E G H	57102	1184	OMIM:618221	Mental retardation, autosomal recessive 66			2
HP:0002463	HP:0000750	Delayed speech and language development	1	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.		114
HP:0002463	HP:0000750	Delayed speech and language development	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV			27
HP:0002463	HP:0030391	Spoken word recognition deficit	1	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		56
HP:0002463	HP:0000750	Delayed speech and language development	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		449
HP:0002463	HP:0000750	Delayed speech and language development	1	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		449
HP:0002463	HP:0000750	Delayed speech and language development	1	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements			5
HP:0002463	HP:0000750	Delayed speech and language development	1	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		5
HP:0002463	HP:0000750	Delayed speech and language development	1	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0002463	HP:0000750	Delayed speech and language development	1	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69			11
HP:0002463	HP:0000750	Delayed speech and language development	1	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		59
HP:0002463	HP:0000750	Delayed speech and language development	1	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay			48
HP:0002463	HP:0000750	Delayed speech and language development	1	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0002463	HP:0000750	Delayed speech and language development	1	CAMK2A CL E G H	815	1460	OMIM:618095	Mental retardation, autosomal recessive 63			1
HP:0002463	HP:0000750	Delayed speech and language development	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0002463	HP:0000750	Delayed speech and language development	1	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0002463	HP:0000750	Delayed speech and language development	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.		34
HP:0002463	HP:0000750	Delayed speech and language development	1	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent		34
HP:0002463	HP:0000750	Delayed speech and language development	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0002463	HP:0000750	Delayed speech and language development	1	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0002463	HP:0000750	Delayed speech and language development	1	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0002463	HP:0000750	Delayed speech and language development	1	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0002463	HP:0000750	Delayed speech and language development	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		3
HP:0002463	HP:0000750	Delayed speech and language development	1	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.		317
HP:0002463	HP:0000750	Delayed speech and language development	1	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3			57
HP:0002463	HP:0000750	Delayed speech and language development	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		36
HP:0002463	HP:0000750	Delayed speech and language development	1	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0002463	HP:0000750	Delayed speech and language development	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.		4
HP:0002463	HP:0000750	Delayed speech and language development	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		126
HP:0002463	HP:0000750	Delayed speech and language development	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		182
HP:0002463	HP:0000750	Delayed speech and language development	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0002463	HP:0000750	Delayed speech and language development	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		23
HP:0002463	HP:0000750	Delayed speech and language development	1	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome			1
HP:0002463	HP:0000750	Delayed speech and language development	1	CCND2 CL E G H	894	1583	OMIM:615938	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3			11
HP:0002463	HP:0000750	Delayed speech and language development	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		23
HP:0002463	HP:0000750	Delayed speech and language development	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0002463	HP:0000750	Delayed speech and language development	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0002463	HP:0000750	Delayed speech and language development	1	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		1003
HP:0002463	HP:0000750	Delayed speech and language development	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome	.		2
HP:0002463	HP:0000750	Delayed speech and language development	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.		8
HP:0002463	HP:0000750	Delayed speech and language development	1	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent		114
HP:0002463	HP:0000750	Delayed speech and language development	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0002463	HP:0000750	Delayed speech and language development	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0002463	HP:0000750	Delayed speech and language development	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0002463	HP:0000750	Delayed speech and language development	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0002463	HP:0000750	Delayed speech and language development	1	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly			200
HP:0002463	HP:0000750	Delayed speech and language development	1	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0002463	HP:0000750	Delayed speech and language development	1	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6			161
HP:0002463	HP:0000750	Delayed speech and language development	1	CEP63 CL E G H	80254	25815	OMIM:614728	Seckel syndrome 6	.		31
HP:0002463	HP:0000750	Delayed speech and language development	1	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8			1
HP:0002463	HP:0000750	Delayed speech and language development	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002463	HP:0000750	Delayed speech and language development	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002463	HP:0000750	Delayed speech and language development	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002463	HP:0000750	Delayed speech and language development	1	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0002463	HP:0000750	Delayed speech and language development	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0002463	HP:0000750	Delayed speech and language development	1	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		227
HP:0002463	HP:0000750	Delayed speech and language development	1	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.		2
HP:0002463	HP:0000750	Delayed speech and language development	1	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0002463	HP:0000750	Delayed speech and language development	1	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0002463	HP:0000750	Delayed speech and language development	1	CHKA CL E G H	1119	1937	OMIM:620023
HP:0002463	HP:0000750	Delayed speech and language development	1	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type	.		53
HP:0002463	HP:0000750	Delayed speech and language development	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0002463	HP:0030391	Spoken word recognition deficit	1	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		42
HP:0002463	HP:0000750	Delayed speech and language development	1	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45			39
HP:0002463	HP:0000750	Delayed speech and language development	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0002463	HP:0000750	Delayed speech and language development	1	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0002463	HP:0000750	Delayed speech and language development	1	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome			45
HP:0002463	HP:0000750	Delayed speech and language development	1	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0002463	HP:0000750	Delayed speech and language development	1	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0002463	HP:0000750	Delayed speech and language development	1	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome			4
HP:0002463	HP:0000750	Delayed speech and language development	1	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8	.		111
HP:0002463	HP:0000750	Delayed speech and language development	1	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent		111
HP:0002463	HP:0000750	Delayed speech and language development	1	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040281 - Very frequent		7
HP:0002463	HP:0000750	Delayed speech and language development	1	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10			7
HP:0002463	HP:0000750	Delayed speech and language development	1	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A			38
HP:0002463	HP:0000750	Delayed speech and language development	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0002463	HP:0000750	Delayed speech and language development	1	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0002463	HP:0000750	Delayed speech and language development	1	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG			18
HP:0002463	HP:0000750	Delayed speech and language development	1	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		18
HP:0002463	HP:0000750	Delayed speech and language development	1	CNNM2 CL E G H	54805	103	OMIM:616418	Hypomagnesemia, seizures, and mental retardation			47
HP:0002463	HP:0000750	Delayed speech and language development	1	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS			2
HP:0002463	HP:0000750	Delayed speech and language development	1	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0002463	HP:0000750	Delayed speech and language development	1	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0002463	HP:0000750	Delayed speech and language development	1	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1			518
HP:0002463	HP:0000750	Delayed speech and language development	1	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0002463	HP:0000750	Delayed speech and language development	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.		52
HP:0002463	HP:0000750	Delayed speech and language development	1	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0002463	HP:0000750	Delayed speech and language development	1	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj			67
HP:0002463	HP:0000750	Delayed speech and language development	1	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.		67
HP:0002463	HP:0000750	Delayed speech and language development	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040281 - Very frequent		79
HP:0002463	HP:0000750	Delayed speech and language development	1	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I			79
HP:0002463	HP:0000750	Delayed speech and language development	1	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	HP:0040282 - Frequent		71
HP:0002463	HP:0000750	Delayed speech and language development	1	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome	.		71
HP:0002463	HP:0000750	Delayed speech and language development	1	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0002463	HP:0000750	Delayed speech and language development	1	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	HP:0040284 - Very rare		749
HP:0002463	HP:0000750	Delayed speech and language development	1	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0002463	HP:0000750	Delayed speech and language development	1	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11			25
HP:0002463	HP:0000750	Delayed speech and language development	1	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63			1
HP:0002463	HP:0000750	Delayed speech and language development	1	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional		1
HP:0002463	HP:0000750	Delayed speech and language development	1	CRADD CL E G H	8738	2340	OMIM:614499	Mental retardation, autosomal recessive 34, with variant lissencephaly	.		6
HP:0002463	HP:0000750	Delayed speech and language development	1	CRAT CL E G H	1384	2342	OMIM:617917	Neurodegeneration with brain iron accumulation 8	.
HP:0002463	HP:0000750	Delayed speech and language development	1	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2			19
HP:0002463	HP:0000750	Delayed speech and language development	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0002463	HP:0000750	Delayed speech and language development	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040281 - Very frequent		291
HP:0002463	HP:0000750	Delayed speech and language development	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040281 - Very frequent		291
HP:0002463	HP:0000750	Delayed speech and language development	1	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.		12
HP:0002463	HP:0000750	Delayed speech and language development	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0002463	HP:0000750	Delayed speech and language development	1	CTBP1 CL E G H	1487	2494	OMIM:617915	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	.		2
HP:0002463	HP:0000750	Delayed speech and language development	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040282 - Frequent		20
HP:0002463	HP:0000750	Delayed speech and language development	1	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9			2
HP:0002463	HP:0000750	Delayed speech and language development	1	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional		273
HP:0002463	HP:0000750	Delayed speech and language development	1	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0002463	HP:0000750	Delayed speech and language development	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0002463	HP:0000750	Delayed speech and language development	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0002463	HP:0000750	Delayed speech and language development	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040282 - Frequent		4
HP:0002463	HP:0000750	Delayed speech and language development	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0002463	HP:0000750	Delayed speech and language development	1	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	HP:0040282 - Frequent		9
HP:0002463	HP:0000750	Delayed speech and language development	1	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17			9
HP:0002463	HP:0000750	Delayed speech and language development	1	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65			1
HP:0002463	HP:0000750	Delayed speech and language development	1	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0002463	HP:0000750	Delayed speech and language development	1	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy			108
HP:0002463	HP:0000750	Delayed speech and language development	1	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9			108
HP:0002463	HP:0000750	Delayed speech and language development	1	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9	.		108
HP:0002463	HP:0000750	Delayed speech and language development	1	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0002463	HP:0000750	Delayed speech and language development	1	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0002463	HP:0000750	Delayed speech and language development	1	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2			36
HP:0002463	HP:0000750	Delayed speech and language development	1	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome			5
HP:0002463	HP:0000750	Delayed speech and language development	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0002463	HP:0000750	Delayed speech and language development	1	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder			33
HP:0002463	HP:0000750	Delayed speech and language development	1	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome			33
HP:0002463	HP:0000750	Delayed speech and language development	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		33
HP:0002463	HP:0000750	Delayed speech and language development	1	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0002463	HP:0000750	Delayed speech and language development	1	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49			6
HP:0002463	HP:0000750	Delayed speech and language development	1	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities	.		47
HP:0002463	HP:0000750	Delayed speech and language development	1	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		47
HP:0002463	HP:0000750	Delayed speech and language development	1	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0002463	HP:0000750	Delayed speech and language development	1	DHTKD1 CL E G H	55526	23537	OMIM:204750	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD			12
HP:0002463	HP:0000750	Delayed speech and language development	1	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language			4
HP:0002463	HP:0000750	Delayed speech and language development	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0002463	HP:0000750	Delayed speech and language development	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0002463	HP:0000750	Delayed speech and language development	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0002463	HP:0000750	Delayed speech and language development	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0002463	HP:0000750	Delayed speech and language development	1	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly			22
HP:0002463	HP:0000750	Delayed speech and language development	1	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90			30
HP:0002463	HP:0000750	Delayed speech and language development	1	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0002463	HP:0000750	Delayed speech and language development	1	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040281 - Very frequent		1
HP:0002463	HP:0000750	Delayed speech and language development	1	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040281 - Very frequent		1
HP:0002463	HP:0000750	Delayed speech and language development	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0002463	HP:0000750	Delayed speech and language development	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0002463	HP:0000750	Delayed speech and language development	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0002463	HP:0000750	Delayed speech and language development	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0002463	HP:0000750	Delayed speech and language development	1	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly			3
HP:0002463	HP:0000750	Delayed speech and language development	1	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		1
HP:0002463	HP:0000750	Delayed speech and language development	1	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent		1496
HP:0002463	HP:0000750	Delayed speech and language development	1	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0002463	HP:0000750	Delayed speech and language development	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		116
HP:0002463	HP:0000750	Delayed speech and language development	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002463	HP:0000750	Delayed speech and language development	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		78
HP:0002463	HP:0000750	Delayed speech and language development	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		63
HP:0002463	HP:0000750	Delayed speech and language development	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		27
HP:0002463	HP:0000750	Delayed speech and language development	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		62
HP:0002463	HP:0000750	Delayed speech and language development	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002463	HP:0000750	Delayed speech and language development	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		21
HP:0002463	HP:0000750	Delayed speech and language development	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		542
HP:0002463	HP:0000750	Delayed speech and language development	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		527
HP:0002463	HP:0000750	Delayed speech and language development	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		18
HP:0002463	HP:0000750	Delayed speech and language development	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		73
HP:0002463	HP:0000750	Delayed speech and language development	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		104
HP:0002463	HP:0000750	Delayed speech and language development	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		2
HP:0002463	HP:0000750	Delayed speech and language development	1	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient			3
HP:0002463	HP:0000750	Delayed speech and language development	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		167
HP:0002463	HP:0000750	Delayed speech and language development	1	DNM1 CL E G H	1759	2972	OMIM:616346	Epileptic encephalopathy, early infantile, 31			72
HP:0002463	HP:0000750	Delayed speech and language development	1	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		72
HP:0002463	HP:0000750	Delayed speech and language development	1	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect			94
HP:0002463	HP:0000750	Delayed speech and language development	1	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0002463	HP:0000750	Delayed speech and language development	1	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia			3
HP:0002463	HP:0000750	Delayed speech and language development	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0002463	HP:0000750	Delayed speech and language development	1	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0002463	HP:0000750	Delayed speech and language development	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0002463	HP:0000750	Delayed speech and language development	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0002463	HP:0000750	Delayed speech and language development	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0002463	HP:0000750	Delayed speech and language development	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0002463	HP:0000750	Delayed speech and language development	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0002463	HP:0000750	Delayed speech and language development	1	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040282 - Frequent		144
HP:0002463	HP:0000750	Delayed speech and language development	1	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency	.		144
HP:0002463	HP:0000750	Delayed speech and language development	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0002463	HP:0000750	Delayed speech and language development	1	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria	.		44
HP:0002463	HP:0000750	Delayed speech and language development	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0002463	HP:0000750	Delayed speech and language development	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		44
HP:0002463	HP:0000750	Delayed speech and language development	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional		65
HP:0002463	HP:0000750	Delayed speech and language development	1	DYNC1H1 CL E G H	1778	2961	OMIM:614228	Charcot-marie-tooth disease, axonal, type 2O			427
HP:0002463	HP:0000750	Delayed speech and language development	1	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies			1
HP:0002463	HP:0000750	Delayed speech and language development	1	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly	HP:0040283 - Occasional
HP:0002463	HP:0000750	Delayed speech and language development	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0002463	HP:0000750	Delayed speech and language development	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040281 - Very frequent		134
HP:0002463	HP:0000750	Delayed speech and language development	1	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0002463	HP:0000750	Delayed speech and language development	1	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12			80
HP:0002463	HP:0000750	Delayed speech and language development	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0002463	HP:0000750	Delayed speech and language development	1	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0002463	HP:0000750	Delayed speech and language development	1	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33			60
HP:0002463	HP:0000750	Delayed speech and language development	1	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38			60
HP:0002463	HP:0000750	Delayed speech and language development	1	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		60
HP:0002463	HP:0000750	Delayed speech and language development	1	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.		48
HP:0002463	HP:0000750	Delayed speech and language development	1	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent		48
HP:0002463	HP:0000750	Delayed speech and language development	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0002463	HP:0000750	Delayed speech and language development	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		223
HP:0002463	HP:0000750	Delayed speech and language development	1	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0002463	HP:0000750	Delayed speech and language development	1	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002463	HP:0000750	Delayed speech and language development	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.		8
HP:0002463	HP:0000750	Delayed speech and language development	1	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0002463	HP:0000750	Delayed speech and language development	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies			4
HP:0002463	HP:0000750	Delayed speech and language development	1	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58			6
HP:0002463	HP:0000750	Delayed speech and language development	1	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0002463	HP:0000750	Delayed speech and language development	1	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040281 - Very frequent		5
HP:0002463	HP:0000750	Delayed speech and language development	1	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0002463	HP:0000750	Delayed speech and language development	1	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB			1
HP:0002463	HP:0000750	Delayed speech and language development	1	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0002463	HP:0000750	Delayed speech and language development	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0002463	HP:0000750	Delayed speech and language development	1	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	.		250
HP:0002463	HP:0000750	Delayed speech and language development	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040281 - Very frequent		250
HP:0002463	HP:0000750	Delayed speech and language development	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.		106
HP:0002463	HP:0000750	Delayed speech and language development	1	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome			12
HP:0002463	HP:0000750	Delayed speech and language development	1	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4			12
HP:0002463	HP:0000750	Delayed speech and language development	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0002463	HP:0000750	Delayed speech and language development	1	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0002463	HP:0000750	Delayed speech and language development	1	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive			18
HP:0002463	HP:0000750	Delayed speech and language development	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040281 - Very frequent		36
HP:0002463	HP:0000750	Delayed speech and language development	1	ERMARD CL E G H	55780	21056	OMIM:615544	Periventricular nodular heterotopia 6	.		36
HP:0002463	HP:0000750	Delayed speech and language development	1	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0002463	HP:0000750	Delayed speech and language development	1	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B			38
HP:0002463	HP:0000750	Delayed speech and language development	1	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0002463	HP:0000750	Delayed speech and language development	1	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040281 - Very frequent		102
HP:0002463	HP:0000750	Delayed speech and language development	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0002463	HP:0000750	Delayed speech and language development	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0002463	HP:0000750	Delayed speech and language development	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0002463	HP:0000750	Delayed speech and language development	1	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD			7
HP:0002463	HP:0000750	Delayed speech and language development	1	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77			36
HP:0002463	HP:0000750	Delayed speech and language development	1	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	HP:0040282 - Frequent		12
HP:0002463	HP:0000750	Delayed speech and language development	1	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects	.
HP:0002463	HP:0000750	Delayed speech and language development	1	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.		7
HP:0002463	HP:0000750	Delayed speech and language development	1	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0002463	HP:0000750	Delayed speech and language development	1	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0002463	HP:0000750	Delayed speech and language development	1	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040281 - Very frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47			3
HP:0002463	HP:0000750	Delayed speech and language development	1	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0002463	HP:0000750	Delayed speech and language development	1	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0002463	HP:0000750	Delayed speech and language development	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0002463	HP:0000750	Delayed speech and language development	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0002463	HP:0000750	Delayed speech and language development	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0002463	HP:0000750	Delayed speech and language development	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0002463	HP:0000750	Delayed speech and language development	1	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly			17
HP:0002463	HP:0000750	Delayed speech and language development	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0002463	HP:0000750	Delayed speech and language development	1	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.		172
HP:0002463	HP:0000750	Delayed speech and language development	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0002463	HP:0000750	Delayed speech and language development	1	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1			172
HP:0002463	HP:0000750	Delayed speech and language development	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional		2
HP:0002463	HP:0000750	Delayed speech and language development	1	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria	HP:0040281 - Very frequent		111
HP:0002463	HP:0000750	Delayed speech and language development	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0002463	HP:0000750	Delayed speech and language development	1	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040281 - Very frequent		184
HP:0002463	HP:0000750	Delayed speech and language development	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0002463	HP:0000750	Delayed speech and language development	1	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0002463	HP:0000750	Delayed speech and language development	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2			493
HP:0002463	HP:0000750	Delayed speech and language development	1	FMN2 CL E G H	56776	14074	OMIM:616193	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47			44
HP:0002463	HP:0000750	Delayed speech and language development	1	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040283 - Occasional		30
HP:0002463	HP:0000750	Delayed speech and language development	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002463	HP:0000750	Delayed speech and language development	1	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion			177
HP:0002463	HP:0000750	Delayed speech and language development	1	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0002463	HP:0000750	Delayed speech and language development	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0002463	HP:0000750	Delayed speech and language development	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0002463	HP:0000750	Delayed speech and language development	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0002463	HP:0000750	Delayed speech and language development	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0002463	HP:0000750	Delayed speech and language development	1	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly			48
HP:0002463	HP:0000750	Delayed speech and language development	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002463	HP:0000750	Delayed speech and language development	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040281 - Very frequent		184
HP:0002463	HP:0000750	Delayed speech and language development	1	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0002463	HP:0000750	Delayed speech and language development	1	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040281 - Very frequent		143
HP:0002463	HP:0000750	Delayed speech and language development	1	FOXP2 CL E G H	93986	13875	OMIM:602081	Speech-language disorder-1	.		143
HP:0002463	HP:0000750	Delayed speech and language development	1	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19			61
HP:0002463	HP:0000750	Delayed speech and language development	1	FRA16E CL E G H	2464	3861	OMIM:136570	Chromosome 16p12.1 deletion syndrome, 520-kbfragile site 16p12, included	HP:0040281 - Very frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0002463	HP:0000750	Delayed speech and language development	1	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0002463	HP:0000750	Delayed speech and language development	1	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0002463	HP:0000750	Delayed speech and language development	1	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37			4
HP:0002463	HP:0000750	Delayed speech and language development	1	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria	HP:0040283 - Occasional		65
HP:0002463	HP:0000750	Delayed speech and language development	1	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9			13
HP:0002463	HP:0000750	Delayed speech and language development	1	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59			5
HP:0002463	HP:0000750	Delayed speech and language development	1	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		5
HP:0002463	HP:0000750	Delayed speech and language development	1	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		4
HP:0002463	HP:0000750	Delayed speech and language development	1	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2			44
HP:0002463	HP:0000750	Delayed speech and language development	1	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		44
HP:0002463	HP:0000750	Delayed speech and language development	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		10
HP:0002463	HP:0000750	Delayed speech and language development	1	GABRG2 CL E G H	2566	4087	OMIM:618396	Epileptic encephalopathy, early infantile, 74			139
HP:0002463	HP:0000750	Delayed speech and language development	1	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		139
HP:0002463	HP:0000750	Delayed speech and language development	1	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency	.		52
HP:0002463	HP:0000750	Delayed speech and language development	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0002463	HP:0000750	Delayed speech and language development	1	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent		351
HP:0002463	HP:0000750	Delayed speech and language development	1	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2	.		91
HP:0002463	HP:0000750	Delayed speech and language development	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0002463	HP:0000750	Delayed speech and language development	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0002463	HP:0000750	Delayed speech and language development	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0002463	HP:0000750	Delayed speech and language development	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0002463	HP:0000750	Delayed speech and language development	1	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly			2
HP:0002463	HP:0000750	Delayed speech and language development	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		1
HP:0002463	HP:0000750	Delayed speech and language development	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		9
HP:0002463	HP:0000750	Delayed speech and language development	1	GATM CL E G H	2628	4175	OMIM:612718	Cerebral creatine deficiency syndrome 3	.		86
HP:0002463	HP:0000750	Delayed speech and language development	1	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0002463	HP:0000750	Delayed speech and language development	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0002463	HP:0000750	Delayed speech and language development	1	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0002463	HP:0000750	Delayed speech and language development	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040282 - Frequent		43
HP:0002463	HP:0000750	Delayed speech and language development	1	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39	.		43
HP:0002463	HP:0000750	Delayed speech and language development	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0002463	HP:0000750	Delayed speech and language development	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0002463	HP:0000750	Delayed speech and language development	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0002463	HP:0000750	Delayed speech and language development	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0002463	HP:0000750	Delayed speech and language development	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0002463	HP:0000750	Delayed speech and language development	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0002463	HP:0000750	Delayed speech and language development	1	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly			173
HP:0002463	HP:0000750	Delayed speech and language development	1	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0002463	HP:0000750	Delayed speech and language development	1	GLS CL E G H	2744	4331	OMIM:618412	Global developmental delay, progressive ataxia, and elevated glutamine	.
HP:0002463	HP:0000750	Delayed speech and language development	1	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria	HP:0040282 - Frequent		6
HP:0002463	HP:0000750	Delayed speech and language development	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0002463	HP:0000750	Delayed speech and language development	1	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0002463	HP:0000750	Delayed speech and language development	1	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14			34
HP:0002463	HP:0000750	Delayed speech and language development	1	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0002463	HP:0000750	Delayed speech and language development	1	GNAO1 CL E G H	2775	4389	OMIM:615473	Epileptic encephalopathy, early infantile, 17			36
HP:0002463	HP:0000750	Delayed speech and language development	1	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements			36
HP:0002463	HP:0000750	Delayed speech and language development	1	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040283 - Occasional		101
HP:0002463	HP:0000750	Delayed speech and language development	1	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome			12
HP:0002463	HP:0000750	Delayed speech and language development	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0002463	HP:0000750	Delayed speech and language development	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002463	HP:0000750	Delayed speech and language development	1	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	HP:0040282 - Frequent		7
HP:0002463	HP:0000750	Delayed speech and language development	1	GNB5 CL E G H	10681	4401	OMIM:617173	Intellectual developmental disorder with cardiac arrhythmia	.		7
HP:0002463	HP:0000750	Delayed speech and language development	1	GNB5 CL E G H	10681	4401	OMIM:617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia	.		7
HP:0002463	HP:0000750	Delayed speech and language development	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0002463	HP:0000750	Delayed speech and language development	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0002463	HP:0000750	Delayed speech and language development	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0002463	HP:0000750	Delayed speech and language development	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.		52
HP:0002463	HP:0000750	Delayed speech and language development	1	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0002463	HP:0000750	Delayed speech and language development	1	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0002463	HP:0000750	Delayed speech and language development	1	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0002463	HP:0000750	Delayed speech and language development	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002463	HP:0000750	Delayed speech and language development	1	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49			4
HP:0002463	HP:0000750	Delayed speech and language development	1	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	HP:0040282 - Frequent		4
HP:0002463	HP:0000750	Delayed speech and language development	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040282 - Frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum			12
HP:0002463	HP:0000750	Delayed speech and language development	1	GRIA1 CL E G H	2890	4571	OMIM:619927				3
HP:0002463	HP:0000750	Delayed speech and language development	1	GRIA1 CL E G H	2890	4571	OMIM:619931				3
HP:0002463	HP:0000750	Delayed speech and language development	1	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB			1
HP:0002463	HP:0000750	Delayed speech and language development	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040281 - Very frequent		30
HP:0002463	HP:0000750	Delayed speech and language development	1	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0002463	HP:0000750	Delayed speech and language development	1	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0002463	HP:0000750	Delayed speech and language development	1	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0002463	HP:0000750	Delayed speech and language development	1	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant			108
HP:0002463	HP:0000750	Delayed speech and language development	1	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive			108
HP:0002463	HP:0000750	Delayed speech and language development	1	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD			434
HP:0002463	HP:0030391	Spoken word recognition deficit	1	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040281 - Very frequent		434
HP:0002463	HP:0000750	Delayed speech and language development	1	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040281 - Very frequent		434
HP:0002463	HP:0000750	Delayed speech and language development	1	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27			274
HP:0002463	HP:0000750	Delayed speech and language development	1	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46			2
HP:0002463	HP:0000750	Delayed speech and language development	1	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		2
HP:0002463	HP:0000750	Delayed speech and language development	1	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency			8
HP:0002463	HP:0000750	Delayed speech and language development	1	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44			8
HP:0002463	HP:0000750	Delayed speech and language development	1	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0002463	HP:0030391	Spoken word recognition deficit	1	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		126
HP:0002463	HP:0000750	Delayed speech and language development	1	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0002463	HP:0000750	Delayed speech and language development	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0002463	HP:0000750	Delayed speech and language development	1	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0002463	HP:0000750	Delayed speech and language development	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0002463	HP:0000750	Delayed speech and language development	1	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040282 - Frequent		10
HP:0002463	HP:0000750	Delayed speech and language development	1	HCN1 CL E G H	348980	4845	OMIM:615871	Epileptic encephalopathy, early infantile, 24			54
HP:0002463	HP:0000750	Delayed speech and language development	1	HCN1 CL E G H	348980	4845	OMIM:618482	Generalized epilepsy with febrile seizures plus, type 10			54
HP:0002463	HP:0000750	Delayed speech and language development	1	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		54
HP:0002463	HP:0000750	Delayed speech and language development	1	HCN4 CL E G H	10021	16882	OMIM:619521	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18; EIG18			185
HP:0002463	HP:0000750	Delayed speech and language development	1	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0002463	HP:0000750	Delayed speech and language development	1	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A			82
HP:0002463	HP:0000750	Delayed speech and language development	1	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation			16
HP:0002463	HP:0000750	Delayed speech and language development	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0002463	HP:0000750	Delayed speech and language development	1	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38			38
HP:0002463	HP:0000750	Delayed speech and language development	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0002463	HP:0000750	Delayed speech and language development	1	HID1 CL E G H	283987	15736	OMIM:619983
HP:0002463	HP:0000750	Delayed speech and language development	1	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13			3
HP:0002463	HP:0000750	Delayed speech and language development	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0002463	HP:0000750	Delayed speech and language development	1	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0002463	HP:0000750	Delayed speech and language development	1	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040281 - Very frequent		2
HP:0002463	HP:0000750	Delayed speech and language development	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent		2
HP:0002463	HP:0000750	Delayed speech and language development	1	HNMT CL E G H	3176	5028	OMIM:616739	Mental retardation, autosomal recessive 51			3
HP:0002463	HP:0000750	Delayed speech and language development	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0002463	HP:0000750	Delayed speech and language development	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0002463	HP:0000750	Delayed speech and language development	1	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040281 - Very frequent		39
HP:0002463	HP:0000750	Delayed speech and language development	1	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54			39
HP:0002463	HP:0000750	Delayed speech and language development	1	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia	HP:0040282 - Frequent		21
HP:0002463	HP:0000750	Delayed speech and language development	1	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	.		2
HP:0002463	HP:0000750	Delayed speech and language development	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0002463	HP:0000750	Delayed speech and language development	1	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0002463	HP:0000750	Delayed speech and language development	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040282 - Frequent		19
HP:0002463	HP:0030391	Spoken word recognition deficit	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional		19
HP:0002463	HP:0000750	Delayed speech and language development	1	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.		19
HP:0002463	HP:0000750	Delayed speech and language development	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		345
HP:0002463	HP:0000750	Delayed speech and language development	1	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome			12
HP:0002463	HP:0000750	Delayed speech and language development	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0002463	HP:0000750	Delayed speech and language development	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		21
HP:0002463	HP:0000750	Delayed speech and language development	1	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0002463	HP:0000750	Delayed speech and language development	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0002463	HP:0000750	Delayed speech and language development	1	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0002463	HP:0000750	Delayed speech and language development	1	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0002463	HP:0000750	Delayed speech and language development	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0002463	HP:0000750	Delayed speech and language development	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent		9
HP:0002463	HP:0000750	Delayed speech and language development	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0002463	HP:0000750	Delayed speech and language development	1	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome	.		111
HP:0002463	HP:0000750	Delayed speech and language development	1	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome	HP:0040281 - Very frequent		111
HP:0002463	HP:0000750	Delayed speech and language development	1	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0002463	HP:0000750	Delayed speech and language development	1	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS			2
HP:0002463	HP:0000750	Delayed speech and language development	1	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0002463	HP:0000750	Delayed speech and language development	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0002463	HP:0000750	Delayed speech and language development	1	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0002463	HP:0000750	Delayed speech and language development	1	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1			119
HP:0002463	HP:0000750	Delayed speech and language development	1	IQSEC2 CL E G H	23096	29059	ORPHA:217377	Microduplication Xp11.22p11.23 syndrome	HP:0040281 - Very frequent		119
HP:0002463	HP:0000750	Delayed speech and language development	1	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome			119
HP:0002463	HP:0000750	Delayed speech and language development	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		119
HP:0002463	HP:0000750	Delayed speech and language development	1	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0002463	HP:0000750	Delayed speech and language development	1	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0002463	HP:0000750	Delayed speech and language development	1	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		99
HP:0002463	HP:0000750	Delayed speech and language development	1	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4			7
HP:0002463	HP:0000750	Delayed speech and language development	1	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29			177
HP:0002463	HP:0000750	Delayed speech and language development	1	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29	HP:0040281 - Very frequent		177
HP:0002463	HP:0000750	Delayed speech and language development	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0002463	HP:0000750	Delayed speech and language development	1	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0002463	HP:0000750	Delayed speech and language development	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040281 - Very frequent		283
HP:0002463	HP:0000750	Delayed speech and language development	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0002463	HP:0000750	Delayed speech and language development	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040281 - Very frequent		283
HP:0002463	HP:0000750	Delayed speech and language development	1	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0002463	HP:0000750	Delayed speech and language development	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0002463	HP:0000750	Delayed speech and language development	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040282 - Frequent		141
HP:0002463	HP:0000750	Delayed speech and language development	1	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0002463	HP:0000750	Delayed speech and language development	1	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040283 - Occasional		145
HP:0002463	HP:0000750	Delayed speech and language development	1	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32			13
HP:0002463	HP:0000750	Delayed speech and language development	1	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		13
HP:0002463	HP:0000750	Delayed speech and language development	1	KCNA4 CL E G H	3739	6222	OMIM:618284	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum	.
HP:0002463	HP:0000750	Delayed speech and language development	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		1
HP:0002463	HP:0000750	Delayed speech and language development	1	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26			65
HP:0002463	HP:0000750	Delayed speech and language development	1	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		65
HP:0002463	HP:0000750	Delayed speech and language development	1	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0002463	HP:0000750	Delayed speech and language development	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0002463	HP:0000750	Delayed speech and language development	1	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome			121
HP:0002463	HP:0000750	Delayed speech and language development	1	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.		121
HP:0002463	HP:0000750	Delayed speech and language development	1	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0002463	HP:0000750	Delayed speech and language development	1	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS			114
HP:0002463	HP:0000750	Delayed speech and language development	1	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0002463	HP:0000750	Delayed speech and language development	1	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46			5
HP:0002463	HP:0000750	Delayed speech and language development	1	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions			106
HP:0002463	HP:0000750	Delayed speech and language development	1	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0002463	HP:0000750	Delayed speech and language development	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040282 - Frequent		3
HP:0002463	HP:0000750	Delayed speech and language development	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0002463	HP:0000750	Delayed speech and language development	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0002463	HP:0000750	Delayed speech and language development	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.		2
HP:0002463	HP:0000750	Delayed speech and language development	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0002463	HP:0000750	Delayed speech and language development	1	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040281 - Very frequent		81
HP:0002463	HP:0000750	Delayed speech and language development	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0002463	HP:0000750	Delayed speech and language development	1	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0002463	HP:0000750	Delayed speech and language development	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0002463	HP:0000750	Delayed speech and language development	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0002463	HP:0000750	Delayed speech and language development	1	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9			276
HP:0002463	HP:0000750	Delayed speech and language development	1	KIF4A CL E G H	24137	13339	OMIM:300923	MENTAL RETARDATION, X-LINKED 100; MRX100			5
HP:0002463	HP:0000750	Delayed speech and language development	1	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0002463	HP:0000750	Delayed speech and language development	1	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103			3
HP:0002463	HP:0000750	Delayed speech and language development	1	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.		91
HP:0002463	HP:0000750	Delayed speech and language development	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040281 - Very frequent		91
HP:0002463	HP:0000750	Delayed speech and language development	1	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset			11
HP:0002463	HP:0000750	Delayed speech and language development	1	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2			99
HP:0002463	HP:0000750	Delayed speech and language development	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		99
HP:0002463	HP:0000750	Delayed speech and language development	1	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.		1
HP:0002463	HP:0000750	Delayed speech and language development	1	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51	.		2
HP:0002463	HP:0000750	Delayed speech and language development	1	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive	.		112
HP:0002463	HP:0000750	Delayed speech and language development	1	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040282 - Frequent		13
HP:0002463	HP:0000750	Delayed speech and language development	1	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41			13
HP:0002463	HP:0000750	Delayed speech and language development	1	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2	HP:0040284 - Very rare		5
HP:0002463	HP:0000750	Delayed speech and language development	1	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome	HP:0040281 - Very frequent		134
HP:0002463	HP:0000750	Delayed speech and language development	1	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked	.
HP:0002463	HP:0000750	Delayed speech and language development	1	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040284 - Very rare		35
HP:0002463	HP:0000750	Delayed speech and language development	1	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome	.		35
HP:0002463	HP:0000750	Delayed speech and language development	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0002463	HP:0000750	Delayed speech and language development	1	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0002463	HP:0000750	Delayed speech and language development	1	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040281 - Very frequent		68
HP:0002463	HP:0000750	Delayed speech and language development	1	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome	.		88
HP:0002463	HP:0000750	Delayed speech and language development	1	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64
HP:0002463	HP:0000750	Delayed speech and language development	1	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27			25
HP:0002463	HP:0000750	Delayed speech and language development	1	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities			2
HP:0002463	HP:0000750	Delayed speech and language development	1	LMAN2L CL E G H	81562	19263	OMIM:617863				1
HP:0002463	HP:0000750	Delayed speech and language development	1	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0002463	HP:0000750	Delayed speech and language development	1	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0002463	HP:0000750	Delayed speech and language development	1	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27			11
HP:0002463	HP:0000750	Delayed speech and language development	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040281 - Very frequent		165
HP:0002463	HP:0000750	Delayed speech and language development	1	LNPK CL E G H	80856	21610	OMIM:618090	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
HP:0002463	HP:0000750	Delayed speech and language development	1	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040283 - Occasional		125
HP:0002463	HP:0000750	Delayed speech and language development	1	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.		191
HP:0002463	HP:0000750	Delayed speech and language development	1	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0002463	HP:0000750	Delayed speech and language development	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002463	HP:0000750	Delayed speech and language development	1	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4			2
HP:0002463	HP:0000750	Delayed speech and language development	1	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent		92
HP:0002463	HP:0000750	Delayed speech and language development	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0002463	HP:0000750	Delayed speech and language development	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0002463	HP:0000750	Delayed speech and language development	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0002463	HP:0000750	Delayed speech and language development	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent		63
HP:0002463	HP:0000750	Delayed speech and language development	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0002463	HP:0000750	Delayed speech and language development	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0002463	HP:0000750	Delayed speech and language development	1	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040283 - Occasional		136
HP:0002463	HP:0000750	Delayed speech and language development	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040281 - Very frequent		136
HP:0002463	HP:0000750	Delayed speech and language development	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0002463	HP:0000750	Delayed speech and language development	1	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0002463	HP:0000750	Delayed speech and language development	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0002463	HP:0000750	Delayed speech and language development	1	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	.		4
HP:0002463	HP:0030391	Spoken word recognition deficit	1	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		140
HP:0002463	HP:0030391	Spoken word recognition deficit	1	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040281 - Very frequent		140
HP:0002463	HP:0000750	Delayed speech and language development	1	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040281 - Very frequent		252
HP:0002463	HP:0000750	Delayed speech and language development	1	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57			5
HP:0002463	HP:0000750	Delayed speech and language development	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		13
HP:0002463	HP:0000750	Delayed speech and language development	1	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	.		3
HP:0002463	HP:0000750	Delayed speech and language development	1	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0002463	HP:0000750	Delayed speech and language development	1	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV			78
HP:0002463	HP:0000750	Delayed speech and language development	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent		3
HP:0002463	HP:0000750	Delayed speech and language development	1	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0002463	HP:0000750	Delayed speech and language development	1	MECP2 CL E G H	4204	6990	OMIM:300496	Autism susceptibility, X-linked 3	.		950
HP:0002463	HP:0000750	Delayed speech and language development	1	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0002463	HP:0000750	Delayed speech and language development	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0002463	HP:0000750	Delayed speech and language development	1	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0002463	HP:0000750	Delayed speech and language development	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent		228
HP:0002463	HP:0000750	Delayed speech and language development	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0002463	HP:0000750	Delayed speech and language development	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0002463	HP:0000750	Delayed speech and language development	1	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0002463	HP:0000750	Delayed speech and language development	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040281 - Very frequent		74
HP:0002463	HP:0000750	Delayed speech and language development	1	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18			25
HP:0002463	HP:0000750	Delayed speech and language development	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0002463	HP:0000750	Delayed speech and language development	1	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0002463	HP:0000750	Delayed speech and language development	1	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome	HP:0040281 - Very frequent		132
HP:0002463	HP:0000750	Delayed speech and language development	1	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20			132
HP:0002463	HP:0000750	Delayed speech and language development	1	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0002463	HP:0000750	Delayed speech and language development	1	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040281 - Very frequent		1
HP:0002463	HP:0000750	Delayed speech and language development	1	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040281 - Very frequent		1
HP:0002463	HP:0000750	Delayed speech and language development	1	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040281 - Very frequent		7
HP:0002463	HP:0000750	Delayed speech and language development	1	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0002463	HP:0000750	Delayed speech and language development	1	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0002463	HP:0000750	Delayed speech and language development	1	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2			17
HP:0002463	HP:0000750	Delayed speech and language development	1	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive			5
HP:0002463	HP:0000750	Delayed speech and language development	1	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7	.		120
HP:0002463	HP:0000750	Delayed speech and language development	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0002463	HP:0000750	Delayed speech and language development	1	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0002463	HP:0000750	Delayed speech and language development	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0002463	HP:0000750	Delayed speech and language development	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0002463	HP:0000750	Delayed speech and language development	1	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0002463	HP:0000750	Delayed speech and language development	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0002463	HP:0000750	Delayed speech and language development	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0002463	HP:0000750	Delayed speech and language development	1	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0002463	HP:0000750	Delayed speech and language development	1	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF			32
HP:0002463	HP:0000750	Delayed speech and language development	1	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0002463	HP:0000750	Delayed speech and language development	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040283 - Occasional		532
HP:0002463	HP:0000750	Delayed speech and language development	1	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0002463	HP:0000750	Delayed speech and language development	1	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38	.
HP:0002463	HP:0000750	Delayed speech and language development	1	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0002463	HP:0000750	Delayed speech and language development	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0002463	HP:0000750	Delayed speech and language development	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0002463	HP:0000750	Delayed speech and language development	1	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		12
HP:0002463	HP:0000750	Delayed speech and language development	1	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	.		29
HP:0002463	HP:0000750	Delayed speech and language development	1	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive	.		19
HP:0002463	HP:0000750	Delayed speech and language development	1	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	.
HP:0002463	HP:0000750	Delayed speech and language development	1	MYRF CL E G H	745	1181	OMIM:618113	Encephalitis/encephalopathy, MILD, with reversible myelin vacuolization	.		2
HP:0002463	HP:0000750	Delayed speech and language development	1	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39	.		13
HP:0002463	HP:0000750	Delayed speech and language development	1	NAA15 CL E G H	80155	30782	OMIM:617787	MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50			1
HP:0002463	HP:0000750	Delayed speech and language development	1	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination			1
HP:0002463	HP:0000750	Delayed speech and language development	1	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.		48
HP:0002463	HP:0000750	Delayed speech and language development	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040281 - Very frequent		48
HP:0002463	HP:0000750	Delayed speech and language development	1	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0002463	HP:0000750	Delayed speech and language development	1	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0002463	HP:0000750	Delayed speech and language development	1	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0002463	HP:0000750	Delayed speech and language development	1	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE			3
HP:0002463	HP:0000750	Delayed speech and language development	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0002463	HP:0000750	Delayed speech and language development	1	NCAPD2 CL E G H	9918	24305	OMIM:617983	Microcephaly 21, primary, autosomal recessive
HP:0002463	HP:0000750	Delayed speech and language development	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0002463	HP:0000750	Delayed speech and language development	1	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0002463	HP:0000750	Delayed speech and language development	1	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0002463	HP:0000750	Delayed speech and language development	1	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0002463	HP:0000750	Delayed speech and language development	1	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0002463	HP:0000750	Delayed speech and language development	1	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0002463	HP:0000750	Delayed speech and language development	1	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		4
HP:0002463	HP:0000750	Delayed speech and language development	1	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7			30
HP:0002463	HP:0000750	Delayed speech and language development	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	HP:0040284 - Very rare		101
HP:0002463	HP:0000750	Delayed speech and language development	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002463	HP:0000750	Delayed speech and language development	1	NEMF CL E G H	9147	10663	OMIM:619099	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN			1
HP:0002463	HP:0000750	Delayed speech and language development	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0002463	HP:0000750	Delayed speech and language development	1	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		52
HP:0002463	HP:0000750	Delayed speech and language development	1	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type			52
HP:0002463	HP:0000750	Delayed speech and language development	1	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome	HP:0040283 - Occasional		1952
HP:0002463	HP:0000750	Delayed speech and language development	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome	.		1952
HP:0002463	HP:0000750	Delayed speech and language development	1	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia	.		20
HP:0002463	HP:0000750	Delayed speech and language development	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040281 - Very frequent		40
HP:0002463	HP:0000750	Delayed speech and language development	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0002463	HP:0000750	Delayed speech and language development	1	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.		40
HP:0002463	HP:0000750	Delayed speech and language development	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0002463	HP:0000750	Delayed speech and language development	1	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent		117
HP:0002463	HP:0000750	Delayed speech and language development	1	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent		1
HP:0002463	HP:0000750	Delayed speech and language development	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0002463	HP:0000750	Delayed speech and language development	1	NLGN3 CL E G H	54413	14289	OMIM:300425	Autism susceptibility, X-linked 1	HP:0040282 - Frequent		24
HP:0002463	HP:0000750	Delayed speech and language development	1	NLGN4X CL E G H	57502	14287	OMIM:300495	Autism, susceptibility to, X-linked 2	.		57
HP:0002463	HP:0000750	Delayed speech and language development	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		50
HP:0002463	HP:0000750	Delayed speech and language development	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0002463	HP:0000750	Delayed speech and language development	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0002463	HP:0000750	Delayed speech and language development	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0002463	HP:0000750	Delayed speech and language development	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0002463	HP:0000750	Delayed speech and language development	1	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly			45
HP:0002463	HP:0000750	Delayed speech and language development	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040282 - Frequent		10
HP:0002463	HP:0000750	Delayed speech and language development	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0002463	HP:0000750	Delayed speech and language development	1	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0002463	HP:0000750	Delayed speech and language development	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0002463	HP:0000750	Delayed speech and language development	1	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0002463	HP:0000750	Delayed speech and language development	1	NR4A2 CL E G H	4929	7981	OMIM:619911				27
HP:0002463	HP:0000750	Delayed speech and language development	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0002463	HP:0000750	Delayed speech and language development	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0002463	HP:0000750	Delayed speech and language development	1	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent		34
HP:0002463	HP:0000750	Delayed speech and language development	1	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.		34
HP:0002463	HP:0000750	Delayed speech and language development	1	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0002463	HP:0000750	Delayed speech and language development	1	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.		84
HP:0002463	HP:0000750	Delayed speech and language development	1	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0002463	HP:0000750	Delayed speech and language development	1	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0002463	HP:0000750	Delayed speech and language development	1	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		8
HP:0002463	HP:0000750	Delayed speech and language development	1	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0002463	HP:0000750	Delayed speech and language development	1	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0002463	HP:0000750	Delayed speech and language development	1	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11	.		5
HP:0002463	HP:0000750	Delayed speech and language development	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent		7
HP:0002463	HP:0000750	Delayed speech and language development	1	NUS1 CL E G H	116150	21042	OMIM:617831	MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55			1
HP:0002463	HP:0000750	Delayed speech and language development	1	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0002463	HP:0000750	Delayed speech and language development	1	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.		2
HP:0002463	HP:0000750	Delayed speech and language development	1	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0002463	HP:0000750	Delayed speech and language development	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002463	HP:0000750	Delayed speech and language development	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002463	HP:0000750	Delayed speech and language development	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002463	HP:0000750	Delayed speech and language development	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002463	HP:0000750	Delayed speech and language development	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0002463	HP:0000750	Delayed speech and language development	1	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0002463	HP:0000750	Delayed speech and language development	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		201
HP:0002463	HP:0000750	Delayed speech and language development	1	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency
HP:0002463	HP:0000750	Delayed speech and language development	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0002463	HP:0000750	Delayed speech and language development	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	HP:0040283 - Occasional		39
HP:0002463	HP:0000750	Delayed speech and language development	1	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0002463	HP:0000750	Delayed speech and language development	1	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0002463	HP:0000750	Delayed speech and language development	1	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0002463	HP:0000750	Delayed speech and language development	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040281 - Very frequent		24
HP:0002463	HP:0000750	Delayed speech and language development	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome	.		24
HP:0002463	HP:0000750	Delayed speech and language development	1	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0002463	HP:0000750	Delayed speech and language development	1	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0002463	HP:0000750	Delayed speech and language development	1	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0002463	HP:0000750	Delayed speech and language development	1	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0002463	HP:0000750	Delayed speech and language development	1	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		14
HP:0002463	HP:0000750	Delayed speech and language development	1	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	.		3
HP:0002463	HP:0000750	Delayed speech and language development	1	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability	HP:0040282 - Frequent		225
HP:0002463	HP:0000750	Delayed speech and language development	1	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0002463	HP:0000750	Delayed speech and language development	1	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0002463	HP:0000750	Delayed speech and language development	1	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.		113
HP:0002463	HP:0000750	Delayed speech and language development	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent		113
HP:0002463	HP:0000750	Delayed speech and language development	1	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		337
HP:0002463	HP:0000750	Delayed speech and language development	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0002463	HP:0000750	Delayed speech and language development	1	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B	.		169
HP:0002463	HP:0000750	Delayed speech and language development	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0002463	HP:0000750	Delayed speech and language development	1	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3			8
HP:0002463	HP:0000750	Delayed speech and language development	1	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	HP:0040282 - Frequent		21
HP:0002463	HP:0000750	Delayed speech and language development	1	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency	.		21
HP:0002463	HP:0000750	Delayed speech and language development	1	PHF21A CL E G H	51317	24156	OMIM:618725	INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS			2
HP:0002463	HP:0000750	Delayed speech and language development	1	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome	.		23
HP:0002463	HP:0000750	Delayed speech and language development	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare		54
HP:0002463	HP:0000750	Delayed speech and language development	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0002463	HP:0000750	Delayed speech and language development	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare		48
HP:0002463	HP:0000750	Delayed speech and language development	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		11
HP:0002463	HP:0000750	Delayed speech and language development	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0002463	HP:0000750	Delayed speech and language development	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0002463	HP:0000750	Delayed speech and language development	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0002463	HP:0000750	Delayed speech and language development	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0002463	HP:0000750	Delayed speech and language development	1	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040282 - Frequent		7
HP:0002463	HP:0000750	Delayed speech and language development	1	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53			7
HP:0002463	HP:0000750	Delayed speech and language development	1	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency			6
HP:0002463	HP:0000750	Delayed speech and language development	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0002463	HP:0000750	Delayed speech and language development	1	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0002463	HP:0000750	Delayed speech and language development	1	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55			2
HP:0002463	HP:0000750	Delayed speech and language development	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0002463	HP:0000750	Delayed speech and language development	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation	HP:0040283 - Occasional		57
HP:0002463	HP:0000750	Delayed speech and language development	1	PIGW CL E G H	284098	23213	OMIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11			6
HP:0002463	HP:0000750	Delayed speech and language development	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.		43
HP:0002463	HP:0000750	Delayed speech and language development	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040283 - Occasional		133
HP:0002463	HP:0000750	Delayed speech and language development	1	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A			133
HP:0002463	HP:0000750	Delayed speech and language development	1	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.		133
HP:0002463	HP:0000750	Delayed speech and language development	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent		3
HP:0002463	HP:0000750	Delayed speech and language development	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent		3
HP:0002463	HP:0000750	Delayed speech and language development	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0002463	HP:0000750	Delayed speech and language development	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0002463	HP:0000750	Delayed speech and language development	1	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040281 - Very frequent		60
HP:0002463	HP:0000750	Delayed speech and language development	1	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form			60
HP:0002463	HP:0000750	Delayed speech and language development	1	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0002463	HP:0000750	Delayed speech and language development	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0002463	HP:0000750	Delayed speech and language development	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent		150
HP:0002463	HP:0000750	Delayed speech and language development	1	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040281 - Very frequent		7
HP:0002463	HP:0000750	Delayed speech and language development	1	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	.		7
HP:0002463	HP:0000750	Delayed speech and language development	1	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6
HP:0002463	HP:0000750	Delayed speech and language development	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0002463	HP:0000750	Delayed speech and language development	1	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0002463	HP:0000750	Delayed speech and language development	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0002463	HP:0000750	Delayed speech and language development	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040282 - Frequent		35
HP:0002463	HP:0000750	Delayed speech and language development	1	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0002463	HP:0000750	Delayed speech and language development	1	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0002463	HP:0000750	Delayed speech and language development	1	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0002463	HP:0000750	Delayed speech and language development	1	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0002463	HP:0000750	Delayed speech and language development	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0002463	HP:0000750	Delayed speech and language development	1	POMGNT2 CL E G H	84892	25902	OMIM:618135	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8	HP:0040284 - Very rare		33
HP:0002463	HP:0000750	Delayed speech and language development	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0002463	HP:0000750	Delayed speech and language development	1	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1			213
HP:0002463	HP:0000750	Delayed speech and language development	1	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040282 - Frequent		213
HP:0002463	HP:0000750	Delayed speech and language development	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0002463	HP:0000750	Delayed speech and language development	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional		76
HP:0002463	HP:0000750	Delayed speech and language development	1	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0002463	HP:0000750	Delayed speech and language development	1	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0002463	HP:0000750	Delayed speech and language development	1	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0002463	HP:0000750	Delayed speech and language development	1	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	.		22
HP:0002463	HP:0000750	Delayed speech and language development	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0002463	HP:0000750	Delayed speech and language development	1	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.		2
HP:0002463	HP:0000750	Delayed speech and language development	1	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36			13
HP:0002463	HP:0000750	Delayed speech and language development	1	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome			13
HP:0002463	HP:0000750	Delayed speech and language development	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040281 - Very frequent		10
HP:0002463	HP:0000750	Delayed speech and language development	1	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35			10
HP:0002463	HP:0000750	Delayed speech and language development	1	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1			2
HP:0002463	HP:0000750	Delayed speech and language development	1	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		2
HP:0002463	HP:0000750	Delayed speech and language development	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		148
HP:0002463	HP:0000750	Delayed speech and language development	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent		134
HP:0002463	HP:0000750	Delayed speech and language development	1	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0002463	HP:0000750	Delayed speech and language development	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia	.		7
HP:0002463	HP:0000750	Delayed speech and language development	1	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.		37
HP:0002463	HP:0000750	Delayed speech and language development	1	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.		6
HP:0002463	HP:0000750	Delayed speech and language development	1	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040283 - Occasional		69
HP:0002463	HP:0000750	Delayed speech and language development	1	PRODH CL E G H	5625	9453	OMIM:239500	Hyperprolinemia, type I			13
HP:0002463	HP:0000750	Delayed speech and language development	1	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome			49
HP:0002463	HP:0000750	Delayed speech and language development	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0002463	HP:0000750	Delayed speech and language development	1	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies			8
HP:0002463	HP:0000750	Delayed speech and language development	1	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0002463	HP:0030391	Spoken word recognition deficit	1	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		241
HP:0002463	HP:0000750	Delayed speech and language development	1	PSMB1 CL E G H	5689	9537	OMIM:620038				2
HP:0002463	HP:0000750	Delayed speech and language development	1	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0002463	HP:0000750	Delayed speech and language development	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040281 - Very frequent		4
HP:0002463	HP:0000750	Delayed speech and language development	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0002463	HP:0000750	Delayed speech and language development	1	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0002463	HP:0000750	Delayed speech and language development	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0002463	HP:0000750	Delayed speech and language development	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0002463	HP:0000750	Delayed speech and language development	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0002463	HP:0000750	Delayed speech and language development	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0002463	HP:0000750	Delayed speech and language development	1	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly			665
HP:0002463	HP:0000750	Delayed speech and language development	1	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency	HP:0040283 - Occasional		19
HP:0002463	HP:0000750	Delayed speech and language development	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0002463	HP:0000750	Delayed speech and language development	1	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47	.		1
HP:0002463	HP:0000750	Delayed speech and language development	1	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31			53
HP:0002463	HP:0000750	Delayed speech and language development	1	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040282 - Frequent		53
HP:0002463	HP:0000750	Delayed speech and language development	1	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0002463	HP:0000750	Delayed speech and language development	1	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0002463	HP:0000750	Delayed speech and language development	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0002463	HP:0000750	Delayed speech and language development	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0002463	HP:0000750	Delayed speech and language development	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.		53
HP:0002463	HP:0000750	Delayed speech and language development	1	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10			11
HP:0002463	HP:0000750	Delayed speech and language development	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0002463	HP:0000750	Delayed speech and language development	1	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0002463	HP:0000750	Delayed speech and language development	1	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0002463	HP:0000750	Delayed speech and language development	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0002463	HP:0000750	Delayed speech and language development	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0002463	HP:0000750	Delayed speech and language development	1	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0002463	HP:0000750	Delayed speech and language development	1	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0002463	HP:0000750	Delayed speech and language development	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0002463	HP:0000750	Delayed speech and language development	1	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0002463	HP:0000750	Delayed speech and language development	1	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0002463	HP:0000750	Delayed speech and language development	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040281 - Very frequent		150
HP:0002463	HP:0000750	Delayed speech and language development	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		150
HP:0002463	HP:0000750	Delayed speech and language development	1	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0002463	HP:0000750	Delayed speech and language development	1	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0002463	HP:0000750	Delayed speech and language development	1	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0002463	HP:0000750	Delayed speech and language development	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0002463	HP:0000750	Delayed speech and language development	1	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7	.
HP:0002463	HP:0000750	Delayed speech and language development	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		16
HP:0002463	HP:0000750	Delayed speech and language development	1	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	HP:0040282 - Frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64			1
HP:0002463	HP:0000750	Delayed speech and language development	1	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS			2
HP:0002463	HP:0000750	Delayed speech and language development	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.		7
HP:0002463	HP:0000750	Delayed speech and language development	1	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0002463	HP:0000750	Delayed speech and language development	1	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly	HP:0040283 - Occasional		37
HP:0002463	HP:0000750	Delayed speech and language development	1	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.		5
HP:0002463	HP:0000750	Delayed speech and language development	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002463	HP:0000750	Delayed speech and language development	1	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0002463	HP:0000750	Delayed speech and language development	1	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15	.		3
HP:0002463	HP:0000750	Delayed speech and language development	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		200
HP:0002463	HP:0000750	Delayed speech and language development	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0002463	HP:0000750	Delayed speech and language development	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040282 - Frequent		10
HP:0002463	HP:0000750	Delayed speech and language development	1	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19			65
HP:0002463	HP:0000750	Delayed speech and language development	1	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0002463	HP:0000750	Delayed speech and language development	1	RRP7A CL E G H	27341	24286	OMIM:619453	MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE; MCPH28
HP:0002463	HP:0000750	Delayed speech and language development	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		31
HP:0002463	HP:0000750	Delayed speech and language development	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		5
HP:0002463	HP:0000750	Delayed speech and language development	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		58
HP:0002463	HP:0000750	Delayed speech and language development	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		20
HP:0002463	HP:0000750	Delayed speech and language development	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0002463	HP:0000750	Delayed speech and language development	1	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70	.		2
HP:0002463	HP:0000750	Delayed speech and language development	1	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040281 - Very frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040281 - Very frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures			113
HP:0002463	HP:0000750	Delayed speech and language development	1	RUBCN CL E G H	9711	28991	ORPHA:404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency	HP:0040281 - Very frequent		9
HP:0002463	HP:0000750	Delayed speech and language development	1	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0002463	HP:0000750	Delayed speech and language development	1	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0002463	HP:0000750	Delayed speech and language development	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0002463	HP:0000750	Delayed speech and language development	1	SATB1 CL E G H	6304	10541	OMIM:619228	DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA
HP:0002463	HP:0000750	Delayed speech and language development	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0002463	HP:0000750	Delayed speech and language development	1	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040281 - Very frequent		34
HP:0002463	HP:0000750	Delayed speech and language development	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.		34
HP:0002463	HP:0000750	Delayed speech and language development	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0002463	HP:0000750	Delayed speech and language development	1	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant			34
HP:0002463	HP:0000750	Delayed speech and language development	1	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0002463	HP:0000750	Delayed speech and language development	1	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		1053
HP:0002463	HP:0000750	Delayed speech and language development	1	SCN3A CL E G H	6328	10590	OMIM:617935	Epilepsy, familial focal, with variable foci 4	HP:0040284 - Very rare		70
HP:0002463	HP:0000750	Delayed speech and language development	1	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62			70
HP:0002463	HP:0000750	Delayed speech and language development	1	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		70
HP:0002463	HP:0000750	Delayed speech and language development	1	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia	.		357
HP:0002463	HP:0000750	Delayed speech and language development	1	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		357
HP:0002463	HP:0000750	Delayed speech and language development	1	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0002463	HP:0000750	Delayed speech and language development	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0002463	HP:0000750	Delayed speech and language development	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0002463	HP:0000750	Delayed speech and language development	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0002463	HP:0000750	Delayed speech and language development	1	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0002463	HP:0000750	Delayed speech and language development	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0002463	HP:0000750	Delayed speech and language development	1	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040283 - Occasional		2
HP:0002463	HP:0000750	Delayed speech and language development	1	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0002463	HP:0000750	Delayed speech and language development	1	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0002463	HP:0000750	Delayed speech and language development	1	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome			47
HP:0002463	HP:0000750	Delayed speech and language development	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58	.		1
HP:0002463	HP:0000750	Delayed speech and language development	1	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome	HP:0040281 - Very frequent		143
HP:0002463	HP:0000750	Delayed speech and language development	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29	.		143
HP:0002463	HP:0000750	Delayed speech and language development	1	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0002463	HP:0000750	Delayed speech and language development	1	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0002463	HP:0000750	Delayed speech and language development	1	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0002463	HP:0000750	Delayed speech and language development	1	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040281 - Very frequent		43
HP:0002463	HP:0000750	Delayed speech and language development	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0002463	HP:0000750	Delayed speech and language development	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.		49
HP:0002463	HP:0000750	Delayed speech and language development	1	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040281 - Very frequent		49
HP:0002463	HP:0000750	Delayed speech and language development	1	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18	.		17
HP:0002463	HP:0000750	Delayed speech and language development	1	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4	HP:0040282 - Frequent		113
HP:0002463	HP:0000750	Delayed speech and language development	1	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040281 - Very frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	HP:0040282 - Frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040281 - Very frequent		53
HP:0002463	HP:0000750	Delayed speech and language development	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0002463	HP:0000750	Delayed speech and language development	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0002463	HP:0000750	Delayed speech and language development	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0002463	HP:0000750	Delayed speech and language development	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0002463	HP:0000750	Delayed speech and language development	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0002463	HP:0000750	Delayed speech and language development	1	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly			67
HP:0002463	HP:0000750	Delayed speech and language development	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0002463	HP:0000750	Delayed speech and language development	1	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0002463	HP:0000750	Delayed speech and language development	1	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type	HP:0040282 - Frequent		42
HP:0002463	HP:0000750	Delayed speech and language development	1	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0002463	HP:0000750	Delayed speech and language development	1	SIK1 CL E G H	150094	11142	OMIM:616341	Deafness, autosomal dominant 67			11
HP:0002463	HP:0000750	Delayed speech and language development	1	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0002463	HP:0000750	Delayed speech and language development	1	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040281 - Very frequent		40
HP:0002463	HP:0000750	Delayed speech and language development	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent		40
HP:0002463	HP:0000750	Delayed speech and language development	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0002463	HP:0000750	Delayed speech and language development	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0002463	HP:0000750	Delayed speech and language development	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0002463	HP:0000750	Delayed speech and language development	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0002463	HP:0000750	Delayed speech and language development	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0002463	HP:0000750	Delayed speech and language development	1	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0002463	HP:0000750	Delayed speech and language development	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		150
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		73
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040282 - Frequent		57
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease	.		78
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41			3
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		63
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040281 - Very frequent		4
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression	HP:0040284 - Very rare		1
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040282 - Frequent		255
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.		255
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		255
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects			255
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration			48
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		29
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48			12
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism			13
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.		122
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency	HP:0040281 - Very frequent		122
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0002463	HP:0000750	Delayed speech and language development	1	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108	HP:0040284 - Very rare
HP:0002463	HP:0000750	Delayed speech and language development	1	SMAD6 CL E G H	4091	6772	OMIM:617439	Craniosynostosis 7	.		33
HP:0002463	HP:0000750	Delayed speech and language development	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0002463	HP:0000750	Delayed speech and language development	1	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent		146
HP:0002463	HP:0000750	Delayed speech and language development	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0002463	HP:0000750	Delayed speech and language development	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0002463	HP:0000750	Delayed speech and language development	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0002463	HP:0000750	Delayed speech and language development	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0002463	HP:0000750	Delayed speech and language development	1	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8	HP:0040284 - Very rare		1
HP:0002463	HP:0000750	Delayed speech and language development	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0002463	HP:0000750	Delayed speech and language development	1	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0002463	HP:0000750	Delayed speech and language development	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0002463	HP:0000750	Delayed speech and language development	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0002463	HP:0000750	Delayed speech and language development	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0002463	HP:0000750	Delayed speech and language development	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0002463	HP:0000750	Delayed speech and language development	1	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0002463	HP:0000750	Delayed speech and language development	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0002463	HP:0000750	Delayed speech and language development	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional		19
HP:0002463	HP:0000750	Delayed speech and language development	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0002463	HP:0000750	Delayed speech and language development	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0002463	HP:0000750	Delayed speech and language development	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0002463	HP:0000750	Delayed speech and language development	1	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			37
HP:0002463	HP:0000750	Delayed speech and language development	1	SNRPN CL E G H	6638	11164	OMIM:209850	Autism susceptibility 1	.		37
HP:0002463	HP:0000750	Delayed speech and language development	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0002463	HP:0000750	Delayed speech and language development	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040281 - Very frequent		14
HP:0002463	HP:0000750	Delayed speech and language development	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0002463	HP:0000750	Delayed speech and language development	1	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus	.		29
HP:0002463	HP:0000750	Delayed speech and language development	1	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0002463	HP:0000750	Delayed speech and language development	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0002463	HP:0000750	Delayed speech and language development	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0002463	HP:0000750	Delayed speech and language development	1	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency	HP:0040281 - Very frequent		11
HP:0002463	HP:0000750	Delayed speech and language development	1	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome	.		11
HP:0002463	HP:0000750	Delayed speech and language development	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		45
HP:0002463	HP:0000750	Delayed speech and language development	1	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII	.		2
HP:0002463	HP:0000750	Delayed speech and language development	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040282 - Frequent		66
HP:0002463	HP:0000750	Delayed speech and language development	1	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0002463	HP:0000750	Delayed speech and language development	1	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0002463	HP:0000750	Delayed speech and language development	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		15
HP:0002463	HP:0000750	Delayed speech and language development	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		20
HP:0002463	HP:0000750	Delayed speech and language development	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		4
HP:0002463	HP:0000750	Delayed speech and language development	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0002463	HP:0000750	Delayed speech and language development	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0002463	HP:0000750	Delayed speech and language development	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0002463	HP:0000750	Delayed speech and language development	1	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency	HP:0040282 - Frequent		28
HP:0002463	HP:0000750	Delayed speech and language development	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0002463	HP:0000750	Delayed speech and language development	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002463	HP:0000750	Delayed speech and language development	1	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia	HP:0040282 - Frequent		126
HP:0002463	HP:0000750	Delayed speech and language development	1	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14	.		126
HP:0002463	HP:0000750	Delayed speech and language development	1	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0002463	HP:0000750	Delayed speech and language development	1	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0002463	HP:0000750	Delayed speech and language development	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040282 - Frequent		138
HP:0002463	HP:0000750	Delayed speech and language development	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0002463	HP:0000750	Delayed speech and language development	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		50
HP:0002463	HP:0000750	Delayed speech and language development	1	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040281 - Very frequent		50
HP:0002463	HP:0000750	Delayed speech and language development	1	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome			47
HP:0002463	HP:0000750	Delayed speech and language development	1	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47	.		9
HP:0002463	HP:0000750	Delayed speech and language development	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0002463	HP:0000750	Delayed speech and language development	1	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.		1
HP:0002463	HP:0000750	Delayed speech and language development	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0002463	HP:0000750	Delayed speech and language development	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0002463	HP:0000750	Delayed speech and language development	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0002463	HP:0000750	Delayed speech and language development	1	STIL CL E G H	6491	10879	OMIM:612703	Microcephaly 7, primary, autosomal recessive			99
HP:0002463	HP:0000750	Delayed speech and language development	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0002463	HP:0000750	Delayed speech and language development	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0002463	HP:0000750	Delayed speech and language development	1	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly			99
HP:0002463	HP:0000750	Delayed speech and language development	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		3
HP:0002463	HP:0000750	Delayed speech and language development	1	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0002463	HP:0000750	Delayed speech and language development	1	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome			6
HP:0002463	HP:0000750	Delayed speech and language development	1	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0002463	HP:0000750	Delayed speech and language development	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040281 - Very frequent		237
HP:0002463	HP:0000750	Delayed speech and language development	1	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4			237
HP:0002463	HP:0000750	Delayed speech and language development	1	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0002463	HP:0000750	Delayed speech and language development	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0002463	HP:0000750	Delayed speech and language development	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0002463	HP:0000750	Delayed speech and language development	1	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		108
HP:0002463	HP:0000750	Delayed speech and language development	1	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		108
HP:0002463	HP:0000750	Delayed speech and language development	1	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040281 - Very frequent		108
HP:0002463	HP:0000750	Delayed speech and language development	1	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		9
HP:0002463	HP:0000750	Delayed speech and language development	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0002463	HP:0000750	Delayed speech and language development	1	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		123
HP:0002463	HP:0000750	Delayed speech and language development	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0002463	HP:0000750	Delayed speech and language development	1	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040281 - Very frequent		21
HP:0002463	HP:0000750	Delayed speech and language development	1	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40			7
HP:0002463	HP:0000750	Delayed speech and language development	1	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome			7
HP:0002463	HP:0000750	Delayed speech and language development	1	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0002463	HP:0000750	Delayed speech and language development	1	TANC2 CL E G H	26115	30212	OMIM:618906	INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0002463	HP:0000750	Delayed speech and language development	1	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0002463	HP:0000750	Delayed speech and language development	1	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040282 - Frequent		12
HP:0002463	HP:0000750	Delayed speech and language development	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0002463	HP:0000750	Delayed speech and language development	1	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0002463	HP:0000750	Delayed speech and language development	1	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11	.
HP:0002463	HP:0000750	Delayed speech and language development	1	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional		271
HP:0002463	HP:0000750	Delayed speech and language development	1	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive	.		4
HP:0002463	HP:0000750	Delayed speech and language development	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0002463	HP:0000750	Delayed speech and language development	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0002463	HP:0000750	Delayed speech and language development	1	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO			52
HP:0002463	HP:0000750	Delayed speech and language development	1	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0002463	HP:0000750	Delayed speech and language development	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040282 - Frequent		13
HP:0002463	HP:0000750	Delayed speech and language development	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0002463	HP:0000750	Delayed speech and language development	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0002463	HP:0000750	Delayed speech and language development	1	TBR1 CL E G H	10716	11590	OMIM:606053	Intellectual developmental disorder with autism and speech delay	.		1
HP:0002463	HP:0000750	Delayed speech and language development	1	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040282 - Frequent		32
HP:0002463	HP:0000750	Delayed speech and language development	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0002463	HP:0000750	Delayed speech and language development	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040281 - Very frequent		55
HP:0002463	HP:0000750	Delayed speech and language development	1	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.		1
HP:0002463	HP:0000750	Delayed speech and language development	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0002463	HP:0000750	Delayed speech and language development	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0002463	HP:0000750	Delayed speech and language development	1	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24			76
HP:0002463	HP:0000750	Delayed speech and language development	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0002463	HP:0000750	Delayed speech and language development	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0002463	HP:0000750	Delayed speech and language development	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0002463	HP:0000750	Delayed speech and language development	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0002463	HP:0000750	Delayed speech and language development	1	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly			1
HP:0002463	HP:0000750	Delayed speech and language development	1	TECR CL E G H	9524	4551	OMIM:614020	Mental retardation, autosomal recessive 14	.		17
HP:0002463	HP:0000750	Delayed speech and language development	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0002463	HP:0000750	Delayed speech and language development	1	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome			12
HP:0002463	HP:0000750	Delayed speech and language development	1	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9	.		12
HP:0002463	HP:0000750	Delayed speech and language development	1	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII	.
HP:0002463	HP:0000750	Delayed speech and language development	1	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0002463	HP:0000750	Delayed speech and language development	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002463	HP:0000750	Delayed speech and language development	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0002463	HP:0000750	Delayed speech and language development	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0002463	HP:0000750	Delayed speech and language development	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0002463	HP:0000750	Delayed speech and language development	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0002463	HP:0000750	Delayed speech and language development	1	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0002463	HP:0000750	Delayed speech and language development	1	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent		80
HP:0002463	HP:0000750	Delayed speech and language development	1	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive	.		80
HP:0002463	HP:0000750	Delayed speech and language development	1	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0002463	HP:0000750	Delayed speech and language development	1	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040282 - Frequent		5
HP:0002463	HP:0000750	Delayed speech and language development	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040281 - Very frequent		1
HP:0002463	HP:0000750	Delayed speech and language development	1	THRB CL E G H	7068	11799	OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant	.		161
HP:0002463	HP:0000750	Delayed speech and language development	1	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0002463	HP:0000750	Delayed speech and language development	1	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0002463	HP:0000750	Delayed speech and language development	1	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9			1
HP:0002463	HP:0000750	Delayed speech and language development	1	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0002463	HP:0000750	Delayed speech and language development	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.		60
HP:0002463	HP:0000750	Delayed speech and language development	1	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0002463	HP:0000750	Delayed speech and language development	1	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects			4
HP:0002463	HP:0000750	Delayed speech and language development	1	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040282 - Frequent		4
HP:0002463	HP:0000750	Delayed speech and language development	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.		1
HP:0002463	HP:0000750	Delayed speech and language development	1	TM4SF20 CL E G H	79853	26230	OMIM:615432	SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5			3
HP:0002463	HP:0000750	Delayed speech and language development	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0002463	HP:0000750	Delayed speech and language development	1	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16	.
HP:0002463	HP:0030391	Spoken word recognition deficit	1	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0002463	HP:0000750	Delayed speech and language development	1	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0002463	HP:0000750	Delayed speech and language development	1	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20			33
HP:0002463	HP:0000750	Delayed speech and language development	1	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0002463	HP:0000750	Delayed speech and language development	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.		1
HP:0002463	HP:0000750	Delayed speech and language development	1	TMLHE CL E G H	55217	18308	OMIM:300872	Autism, susceptibility to, X-linked 6	HP:0040283 - Occasional		10
HP:0002463	HP:0000750	Delayed speech and language development	1	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8			5
HP:0002463	HP:0000750	Delayed speech and language development	1	TNIK CL E G H	23043	30765	OMIM:617028	Mental retardation, autosomal recessive 54	.		2
HP:0002463	HP:0000750	Delayed speech and language development	1	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0002463	HP:0000750	Delayed speech and language development	1	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO			7
HP:0002463	HP:0000750	Delayed speech and language development	1	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0002463	HP:0000750	Delayed speech and language development	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0002463	HP:0000750	Delayed speech and language development	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0002463	HP:0000750	Delayed speech and language development	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0002463	HP:0000750	Delayed speech and language development	1	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4	.
HP:0002463	HP:0000750	Delayed speech and language development	1	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		140
HP:0002463	HP:0000750	Delayed speech and language development	1	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0002463	HP:0000750	Delayed speech and language development	1	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2	.		203
HP:0002463	HP:0000750	Delayed speech and language development	1	TPRN CL E G H	286262	26894	OMIM:613307	Deafness, autosomal recessive 79	.	HP:0011463 - Childhood onset	32
HP:0002463	HP:0000750	Delayed speech and language development	1	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0002463	HP:0000750	Delayed speech and language development	1	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0002463	HP:0000750	Delayed speech and language development	1	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18			27
HP:0002463	HP:0000750	Delayed speech and language development	1	TRAPPC14 CL E G H	55262	25604	OMIM:618351	Microcephaly 25, primary, autosomal recessive	.
HP:0002463	HP:0000750	Delayed speech and language development	1	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0002463	HP:0000750	Delayed speech and language development	1	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0002463	HP:0000750	Delayed speech and language development	1	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0002463	HP:0030391	Spoken word recognition deficit	1	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		31
HP:0002463	HP:0000750	Delayed speech and language development	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0002463	HP:0000750	Delayed speech and language development	1	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0002463	HP:0000750	Delayed speech and language development	1	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0002463	HP:0000750	Delayed speech and language development	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44	.		8
HP:0002463	HP:0000750	Delayed speech and language development	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0002463	HP:0000750	Delayed speech and language development	1	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49	.		2
HP:0002463	HP:0000750	Delayed speech and language development	1	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040283 - Occasional		4
HP:0002463	HP:0000750	Delayed speech and language development	1	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35			12
HP:0002463	HP:0000750	Delayed speech and language development	1	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68	.		1
HP:0002463	HP:0000750	Delayed speech and language development	1	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal	HP:0040284 - Very rare		4
HP:0002463	HP:0000750	Delayed speech and language development	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0002463	HP:0000750	Delayed speech and language development	1	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F			3
HP:0002463	HP:0000750	Delayed speech and language development	1	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune	.		97
HP:0002463	HP:0000750	Delayed speech and language development	1	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58			26
HP:0002463	HP:0000750	Delayed speech and language development	1	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent		2
HP:0002463	HP:0000750	Delayed speech and language development	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002463	HP:0000750	Delayed speech and language development	1	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0002463	HP:0000750	Delayed speech and language development	1	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39	.		11
HP:0002463	HP:0000750	Delayed speech and language development	1	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040282 - Frequent		11
HP:0002463	HP:0000750	Delayed speech and language development	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		7128
HP:0002463	HP:0000750	Delayed speech and language development	1	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia			21
HP:0002463	HP:0000750	Delayed speech and language development	1	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6	.		14
HP:0002463	HP:0000750	Delayed speech and language development	1	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.		14
HP:0002463	HP:0000750	Delayed speech and language development	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0002463	HP:0000750	Delayed speech and language development	1	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1			64
HP:0002463	HP:0000750	Delayed speech and language development	1	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	.		66
HP:0002463	HP:0000750	Delayed speech and language development	1	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent		14
HP:0002463	HP:0000750	Delayed speech and language development	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040281 - Very frequent		7
HP:0002463	HP:0000750	Delayed speech and language development	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	.		7
HP:0002463	HP:0000750	Delayed speech and language development	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0002463	HP:0000750	Delayed speech and language development	1	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0002463	HP:0000750	Delayed speech and language development	1	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44			13
HP:0002463	HP:0000750	Delayed speech and language development	1	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		13
HP:0002463	HP:0000750	Delayed speech and language development	1	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum
HP:0002463	HP:0000750	Delayed speech and language development	1	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0002463	HP:0000750	Delayed speech and language development	1	UBE3A CL E G H	7337	12496	ORPHA:238446	15q11q13 microduplication syndrome	HP:0040281 - Very frequent		278
HP:0002463	HP:0000750	Delayed speech and language development	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0002463	HP:0000750	Delayed speech and language development	1	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			278
HP:0002463	HP:0000750	Delayed speech and language development	1	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0002463	HP:0000750	Delayed speech and language development	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0002463	HP:0000750	Delayed speech and language development	1	UBE4A CL E G H	9354	12499	OMIM:619639	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS			1
HP:0002463	HP:0000750	Delayed speech and language development	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder			1
HP:0002463	HP:0000750	Delayed speech and language development	1	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth
HP:0002463	HP:0000750	Delayed speech and language development	1	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14
HP:0002463	HP:0000750	Delayed speech and language development	1	UFSP2 CL E G H	55325	25640	OMIM:620028				2
HP:0002463	HP:0000750	Delayed speech and language development	1	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0002463	HP:0000750	Delayed speech and language development	1	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1	HP:0040283 - Occasional		73
HP:0002463	HP:0000750	Delayed speech and language development	1	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0002463	HP:0000750	Delayed speech and language development	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040281 - Very frequent		23
HP:0002463	HP:0000750	Delayed speech and language development	1	UQCRQ CL E G H	27089	29594	OMIM:615159	Mitochondrial complex III deficiency, nuclear type 4			34
HP:0002463	HP:0000750	Delayed speech and language development	1	USP27X CL E G H	389856	13486	OMIM:300984	MENTAL RETARDATION, X-LINKED 105; MRX105			3
HP:0002463	HP:0000750	Delayed speech and language development	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040281 - Very frequent		2
HP:0002463	HP:0000750	Delayed speech and language development	1	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0002463	HP:0000750	Delayed speech and language development	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.		27
HP:0002463	HP:0000750	Delayed speech and language development	1	VAC14 CL E G H	55697	25507	OMIM:617054	Striatonigral degeneration, childhood-onset	.		6
HP:0002463	HP:0000750	Delayed speech and language development	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0002463	HP:0030391	Spoken word recognition deficit	1	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		63
HP:0002463	HP:0000750	Delayed speech and language development	1	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	.		111
HP:0002463	HP:0000750	Delayed speech and language development	1	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0002463	HP:0000750	Delayed speech and language development	1	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy			1
HP:0002463	HP:0000750	Delayed speech and language development	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0002463	HP:0000750	Delayed speech and language development	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0002463	HP:0000750	Delayed speech and language development	1	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53	HP:0040282 - Frequent		7
HP:0002463	HP:0000750	Delayed speech and language development	1	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53			7
HP:0002463	HP:0000750	Delayed speech and language development	1	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0002463	HP:0000750	Delayed speech and language development	1	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0002463	HP:0000750	Delayed speech and language development	1	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome	.		20
HP:0002463	HP:0000750	Delayed speech and language development	1	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040281 - Very frequent		20
HP:0002463	HP:0000750	Delayed speech and language development	1	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040282 - Frequent		20
HP:0002463	HP:0000750	Delayed speech and language development	1	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0002463	HP:0000750	Delayed speech and language development	1	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3			2
HP:0002463	HP:0000750	Delayed speech and language development	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0002463	HP:0000750	Delayed speech and language development	1	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0002463	HP:0000750	Delayed speech and language development	1	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0002463	HP:0000750	Delayed speech and language development	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040281 - Very frequent		8
HP:0002463	HP:0000750	Delayed speech and language development	1	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0002463	HP:0000750	Delayed speech and language development	1	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0002463	HP:0000750	Delayed speech and language development	1	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6	.
HP:0002463	HP:0000750	Delayed speech and language development	1	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0002463	HP:0000750	Delayed speech and language development	1	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5			51
HP:0002463	HP:0000750	Delayed speech and language development	1	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures			1
HP:0002463	HP:0000750	Delayed speech and language development	1	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	.		224
HP:0002463	HP:0000750	Delayed speech and language development	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0002463	HP:0000750	Delayed speech and language development	1	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.		27
HP:0002463	HP:0000750	Delayed speech and language development	1	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0002463	HP:0000750	Delayed speech and language development	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0002463	HP:0000750	Delayed speech and language development	1	WWOX CL E G H	51741	12799	ORPHA:284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency	HP:0040281 - Very frequent		149
HP:0002463	HP:0000750	Delayed speech and language development	1	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		149
HP:0002463	HP:0000750	Delayed speech and language development	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.		9
HP:0002463	HP:0000750	Delayed speech and language development	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2	.		14
HP:0002463	HP:0000750	Delayed speech and language development	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002463	HP:0000750	Delayed speech and language development	1	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0002463	HP:0000750	Delayed speech and language development	1	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11			2
HP:0002463	HP:0000750	Delayed speech and language development	1	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0002463	HP:0000750	Delayed speech and language development	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040282 - Frequent		7
HP:0002463	HP:0000750	Delayed speech and language development	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome	.		7
HP:0002463	HP:0000750	Delayed speech and language development	1	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69
HP:0002463	HP:0000750	Delayed speech and language development	1	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0002463	HP:0000750	Delayed speech and language development	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0002463	HP:0000750	Delayed speech and language development	1	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0002463	HP:0000750	Delayed speech and language development	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0002463	HP:0000750	Delayed speech and language development	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0002463	HP:0000750	Delayed speech and language development	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0002463	HP:0000750	Delayed speech and language development	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0002463	HP:0000750	Delayed speech and language development	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0002463	HP:0000750	Delayed speech and language development	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0002463	HP:0000750	Delayed speech and language development	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0002463	HP:0000750	Delayed speech and language development	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0002463	HP:0000750	Delayed speech and language development	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0002463	HP:0000750	Delayed speech and language development	1	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly			34
HP:0002463	HP:0000750	Delayed speech and language development	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0002463	HP:0000750	Delayed speech and language development	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0002463	HP:0000750	Delayed speech and language development	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		20
HP:0002463	HP:0000750	Delayed speech and language development	1	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30	.		24
HP:0002463	HP:0000750	Delayed speech and language development	1	ZNF142 CL E G H	7701	12927	OMIM:618425	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	.
HP:0002463	HP:0000750	Delayed speech and language development	1	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0002463	HP:0000750	Delayed speech and language development	1	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0002463	HP:0000750	Delayed speech and language development	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0002463	HP:0000750	Delayed speech and language development	1	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0002463	HP:0000750	Delayed speech and language development	1	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features			5
HP:0002463	HP:0001344	Absent speech	2	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0002463	HP:0001344	Absent speech	2	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0002463	HP:0001344	Absent speech	2	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76			2
HP:0002463	HP:0001344	Absent speech	2	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects	.		2
HP:0002463	HP:0001344	Absent speech	2	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0002463	HP:0001344	Absent speech	2	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency	HP:0040281 - Very frequent		118
HP:0002463	HP:0010863	Receptive language delay	2	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0002463	HP:0001344	Absent speech	2	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0002463	HP:0002474	Expressive language delay	2	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040282 - Frequent		36
HP:0002463	HP:0001344	Absent speech	2	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17	.		1
HP:0002463	HP:0001344	Absent speech	2	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	.		89
HP:0002463	HP:0001344	Absent speech	2	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip	.		41
HP:0002463	HP:0001344	Absent speech	2	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF			12
HP:0002463	HP:0010863	Receptive language delay	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent		404
HP:0002463	HP:0001344	Absent speech	2	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48			7
HP:0002463	HP:0001344	Absent speech	2	ARFGEF1 CL E G H	10565	15772	OMIM:619964
HP:0002463	HP:0001344	Absent speech	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		88
HP:0002463	HP:0001344	Absent speech	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		219
HP:0002463	HP:0002474	Expressive language delay	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0002463	HP:0001344	Absent speech	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		25
HP:0002463	HP:0001344	Absent speech	2	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0002463	HP:0001344	Absent speech	2	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52	.		1
HP:0002463	HP:0001344	Absent speech	2	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040281 - Very frequent		48
HP:0002463	HP:0002474	Expressive language delay	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0002463	HP:0001344	Absent speech	2	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040282 - Frequent		49
HP:0002463	HP:0001344	Absent speech	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0002463	HP:0001344	Absent speech	2	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0002463	HP:0001344	Absent speech	2	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0002463	HP:0001344	Absent speech	2	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional		4
HP:0002463	HP:0001344	Absent speech	2	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98			239
HP:0002463	HP:0001344	Absent speech	2	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3	.		3
HP:0002463	HP:0001344	Absent speech	2	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0002463	HP:0001344	Absent speech	2	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.		3
HP:0002463	HP:0001344	Absent speech	2	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0002463	HP:0001344	Absent speech	2	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0002463	HP:0001344	Absent speech	2	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.		20
HP:0002463	HP:0001344	Absent speech	2	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.		27
HP:0002463	HP:0001344	Absent speech	2	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	.		5
HP:0002463	HP:0001344	Absent speech	2	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69			11
HP:0002463	HP:0001344	Absent speech	2	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay			48
HP:0002463	HP:0001344	Absent speech	2	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53	.		1
HP:0002463	HP:0001344	Absent speech	2	CAMK2A CL E G H	815	1460	OMIM:618095	Mental retardation, autosomal recessive 63			1
HP:0002463	HP:0001344	Absent speech	2	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54	.
HP:0002463	HP:0001344	Absent speech	2	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040283 - Occasional		35
HP:0002463	HP:0001344	Absent speech	2	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0002463	HP:0001344	Absent speech	2	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type	HP:0040283 - Occasional		118
HP:0002463	HP:0001344	Absent speech	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		3
HP:0002463	HP:0001344	Absent speech	2	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0002463	HP:0001344	Absent speech	2	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome	.		1
HP:0002463	HP:0001344	Absent speech	2	CCND2 CL E G H	894	1583	OMIM:615938	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3	.		11
HP:0002463	HP:0001344	Absent speech	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional		6
HP:0002463	HP:0001344	Absent speech	2	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.		6
HP:0002463	HP:0001344	Absent speech	2	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0002463	HP:0001344	Absent speech	2	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		200
HP:0002463	HP:0001344	Absent speech	2	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		200
HP:0002463	HP:0001344	Absent speech	2	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0002463	HP:0002474	Expressive language delay	2	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		200
HP:0002463	HP:0001344	Absent speech	2	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6			161
HP:0002463	HP:0001344	Absent speech	2	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.		16
HP:0002463	HP:0001344	Absent speech	2	CHKA CL E G H	1119	1937	OMIM:620023
HP:0002463	HP:0001344	Absent speech	2	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	.		19
HP:0002463	HP:0001344	Absent speech	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0002463	HP:0001344	Absent speech	2	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0002463	HP:0001344	Absent speech	2	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	.		45
HP:0002463	HP:0001344	Absent speech	2	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0002463	HP:0001344	Absent speech	2	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040282 - Frequent		4
HP:0002463	HP:0001344	Absent speech	2	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.		7
HP:0002463	HP:0001344	Absent speech	2	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A			38
HP:0002463	HP:0001344	Absent speech	2	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0002463	HP:0001344	Absent speech	2	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG			18
HP:0002463	HP:0001344	Absent speech	2	CNNM2 CL E G H	54805	103	OMIM:616418	Hypomagnesemia, seizures, and mental retardation	.		47
HP:0002463	HP:0001344	Absent speech	2	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0002463	HP:0010863	Receptive language delay	2	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0002463	HP:0001344	Absent speech	2	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1	.		518
HP:0002463	HP:0001344	Absent speech	2	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent		67
HP:0002463	HP:0001344	Absent speech	2	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj	.		67
HP:0002463	HP:0001344	Absent speech	2	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0002463	HP:0001344	Absent speech	2	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0002463	HP:0001344	Absent speech	2	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63	.		1
HP:0002463	HP:0001344	Absent speech	2	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2			19
HP:0002463	HP:0001344	Absent speech	2	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional		291
HP:0002463	HP:0001344	Absent speech	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional		291
HP:0002463	HP:0001344	Absent speech	2	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.		12
HP:0002463	HP:0001344	Absent speech	2	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		57
HP:0002463	HP:0001344	Absent speech	2	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9	.		2
HP:0002463	HP:0001344	Absent speech	2	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	.		38
HP:0002463	HP:0001344	Absent speech	2	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040281 - Very frequent		38
HP:0002463	HP:0001344	Absent speech	2	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65			1
HP:0002463	HP:0001344	Absent speech	2	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	HP:0040282 - Frequent		108
HP:0002463	HP:0001344	Absent speech	2	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	.		108
HP:0002463	HP:0001344	Absent speech	2	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0002463	HP:0001344	Absent speech	2	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040284 - Very rare		60
HP:0002463	HP:0001344	Absent speech	2	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome	.		5
HP:0002463	HP:0001344	Absent speech	2	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder	.		33
HP:0002463	HP:0001344	Absent speech	2	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome	HP:0040283 - Occasional		33
HP:0002463	HP:0001344	Absent speech	2	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0002463	HP:0001344	Absent speech	2	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	.		6
HP:0002463	HP:0001344	Absent speech	2	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.		4
HP:0002463	HP:0001344	Absent speech	2	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0002463	HP:0001344	Absent speech	2	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		22
HP:0002463	HP:0001344	Absent speech	2	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		22
HP:0002463	HP:0001344	Absent speech	2	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0002463	HP:0002474	Expressive language delay	2	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		22
HP:0002463	HP:0001344	Absent speech	2	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0002463	HP:0001344	Absent speech	2	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		3
HP:0002463	HP:0001344	Absent speech	2	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		3
HP:0002463	HP:0001344	Absent speech	2	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0002463	HP:0002474	Expressive language delay	2	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		3
HP:0002463	HP:0001344	Absent speech	2	DNM1 CL E G H	1759	2972	OMIM:616346	Epileptic encephalopathy, early infantile, 31	.		72
HP:0002463	HP:0001344	Absent speech	2	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent		94
HP:0002463	HP:0001344	Absent speech	2	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia			3
HP:0002463	HP:0001344	Absent speech	2	DOHH CL E G H	83475	28662	OMIM:620066
HP:0002463	HP:0001344	Absent speech	2	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0002463	HP:0001344	Absent speech	2	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040284 - Very rare		38
HP:0002463	HP:0001344	Absent speech	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0002463	HP:0001344	Absent speech	2	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0002463	HP:0001344	Absent speech	2	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040282 - Frequent		26
HP:0002463	HP:0002474	Expressive language delay	2	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0002463	HP:0001344	Absent speech	2	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0002463	HP:0001344	Absent speech	2	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0002463	HP:0001344	Absent speech	2	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040282 - Frequent		134
HP:0002463	HP:0001344	Absent speech	2	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040282 - Frequent		134
HP:0002463	HP:0001344	Absent speech	2	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.		80
HP:0002463	HP:0001344	Absent speech	2	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33	.		60
HP:0002463	HP:0001344	Absent speech	2	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38	.		60
HP:0002463	HP:0010863	Receptive language delay	2	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0002463	HP:0002474	Expressive language delay	2	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0002463	HP:0001344	Absent speech	2	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002463	HP:0001344	Absent speech	2	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0002463	HP:0001344	Absent speech	2	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58	.		6
HP:0002463	HP:0001344	Absent speech	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional		250
HP:0002463	HP:0001344	Absent speech	2	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040282 - Frequent		18
HP:0002463	HP:0001344	Absent speech	2	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040281 - Very frequent		18
HP:0002463	HP:0001344	Absent speech	2	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	.		18
HP:0002463	HP:0001344	Absent speech	2	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.		38
HP:0002463	HP:0001344	Absent speech	2	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0002463	HP:0001344	Absent speech	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0002463	HP:0001344	Absent speech	2	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040283 - Occasional		36
HP:0002463	HP:0001344	Absent speech	2	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47	.		3
HP:0002463	HP:0001344	Absent speech	2	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0002463	HP:0001344	Absent speech	2	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		17
HP:0002463	HP:0001344	Absent speech	2	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		17
HP:0002463	HP:0001344	Absent speech	2	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0002463	HP:0002474	Expressive language delay	2	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		17
HP:0002463	HP:0001344	Absent speech	2	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		172
HP:0002463	HP:0001344	Absent speech	2	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0002463	HP:0001344	Absent speech	2	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0002463	HP:0001344	Absent speech	2	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0002463	HP:0010863	Receptive language delay	2	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0002463	HP:0002474	Expressive language delay	2	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0002463	HP:0001344	Absent speech	2	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040281 - Very frequent		177
HP:0002463	HP:0001344	Absent speech	2	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0002463	HP:0001344	Absent speech	2	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0002463	HP:0001344	Absent speech	2	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		48
HP:0002463	HP:0001344	Absent speech	2	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		48
HP:0002463	HP:0001344	Absent speech	2	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0002463	HP:0002474	Expressive language delay	2	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		48
HP:0002463	HP:0002474	Expressive language delay	2	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040281 - Very frequent		184
HP:0002463	HP:0010863	Receptive language delay	2	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040282 - Frequent		143
HP:0002463	HP:0002474	Expressive language delay	2	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040282 - Frequent		143
HP:0002463	HP:0001344	Absent speech	2	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19			61
HP:0002463	HP:0001344	Absent speech	2	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	.		1
HP:0002463	HP:0001344	Absent speech	2	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	HP:0040282 - Frequent		1
HP:0002463	HP:0001344	Absent speech	2	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0002463	HP:0001344	Absent speech	2	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37	.		4
HP:0002463	HP:0001344	Absent speech	2	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59	.		5
HP:0002463	HP:0001344	Absent speech	2	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2	.		44
HP:0002463	HP:0001344	Absent speech	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		10
HP:0002463	HP:0001344	Absent speech	2	GABRG2 CL E G H	2566	4087	OMIM:618396	Epileptic encephalopathy, early infantile, 74	.		139
HP:0002463	HP:0001344	Absent speech	2	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2			91
HP:0002463	HP:0001344	Absent speech	2	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0002463	HP:0001344	Absent speech	2	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		2
HP:0002463	HP:0001344	Absent speech	2	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		2
HP:0002463	HP:0001344	Absent speech	2	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0002463	HP:0002474	Expressive language delay	2	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		2
HP:0002463	HP:0001344	Absent speech	2	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	.		1
HP:0002463	HP:0001344	Absent speech	2	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040282 - Frequent		43
HP:0002463	HP:0001344	Absent speech	2	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0002463	HP:0001344	Absent speech	2	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		173
HP:0002463	HP:0001344	Absent speech	2	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		173
HP:0002463	HP:0001344	Absent speech	2	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0002463	HP:0002474	Expressive language delay	2	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		173
HP:0002463	HP:0001344	Absent speech	2	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14	.		34
HP:0002463	HP:0001344	Absent speech	2	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0002463	HP:0001344	Absent speech	2	GNAO1 CL E G H	2775	4389	OMIM:615473	Epileptic encephalopathy, early infantile, 17	.		36
HP:0002463	HP:0001344	Absent speech	2	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements	.		36
HP:0002463	HP:0002474	Expressive language delay	2	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	HP:0040282 - Frequent		12
HP:0002463	HP:0002474	Expressive language delay	2	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0002463	HP:0010863	Receptive language delay	2	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0002463	HP:0001344	Absent speech	2	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	HP:0040282 - Frequent		7
HP:0002463	HP:0001344	Absent speech	2	GNB5 CL E G H	10681	4401	OMIM:617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia			7
HP:0002463	HP:0002474	Expressive language delay	2	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent		173
HP:0002463	HP:0002474	Expressive language delay	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040281 - Very frequent		240
HP:0002463	HP:0001344	Absent speech	2	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.		69
HP:0002463	HP:0001344	Absent speech	2	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0002463	HP:0001344	Absent speech	2	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49	.		4
HP:0002463	HP:0010863	Receptive language delay	2	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum	HP:0040282 - Frequent		12
HP:0002463	HP:0001344	Absent speech	2	GRIA1 CL E G H	2890	4571	OMIM:619931				3
HP:0002463	HP:0001344	Absent speech	2	GRIA1 CL E G H	2890	4571	OMIM:619927				3
HP:0002463	HP:0001344	Absent speech	2	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB			1
HP:0002463	HP:0002474	Expressive language delay	2	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0002463	HP:0001344	Absent speech	2	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	.
HP:0002463	HP:0001344	Absent speech	2	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0002463	HP:0001344	Absent speech	2	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	.		108
HP:0002463	HP:0001344	Absent speech	2	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	.		108
HP:0002463	HP:0001344	Absent speech	2	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27	.		274
HP:0002463	HP:0001344	Absent speech	2	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46	.		2
HP:0002463	HP:0001344	Absent speech	2	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency	HP:0040283 - Occasional		8
HP:0002463	HP:0001344	Absent speech	2	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0002463	HP:0001344	Absent speech	2	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0002463	HP:0001344	Absent speech	2	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0002463	HP:0001344	Absent speech	2	HCN1 CL E G H	348980	4845	OMIM:615871	Epileptic encephalopathy, early infantile, 24			54
HP:0002463	HP:0001344	Absent speech	2	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0002463	HP:0001344	Absent speech	2	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.		16
HP:0002463	HP:0002474	Expressive language delay	2	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0002463	HP:0001344	Absent speech	2	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent		16
HP:0002463	HP:0001344	Absent speech	2	HID1 CL E G H	283987	15736	OMIM:619983
HP:0002463	HP:0001344	Absent speech	2	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13	.		3
HP:0002463	HP:0001344	Absent speech	2	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43	.		13
HP:0002463	HP:0001344	Absent speech	2	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0002463	HP:0001344	Absent speech	2	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0002463	HP:0001344	Absent speech	2	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54	.		39
HP:0002463	HP:0001344	Absent speech	2	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional		19
HP:0002463	HP:0001344	Absent speech	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		345
HP:0002463	HP:0001344	Absent speech	2	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	.		12
HP:0002463	HP:0001344	Absent speech	2	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.		98
HP:0002463	HP:0001344	Absent speech	2	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040282 - Frequent
HP:0002463	HP:0001344	Absent speech	2	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7	.		28
HP:0002463	HP:0001344	Absent speech	2	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0002463	HP:0001344	Absent speech	2	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS			2
HP:0002463	HP:0001344	Absent speech	2	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0002463	HP:0001344	Absent speech	2	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome	HP:0040283 - Occasional		119
HP:0002463	HP:0001344	Absent speech	2	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	.
HP:0002463	HP:0001344	Absent speech	2	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0002463	HP:0001344	Absent speech	2	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4	.		7
HP:0002463	HP:0001344	Absent speech	2	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0002463	HP:0001344	Absent speech	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0002463	HP:0001344	Absent speech	2	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32	.		13
HP:0002463	HP:0001344	Absent speech	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		1
HP:0002463	HP:0001344	Absent speech	2	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26			65
HP:0002463	HP:0001344	Absent speech	2	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0002463	HP:0001344	Absent speech	2	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040282 - Frequent		13
HP:0002463	HP:0001344	Absent speech	2	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040283 - Occasional		121
HP:0002463	HP:0001344	Absent speech	2	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46	.		5
HP:0002463	HP:0001344	Absent speech	2	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions			106
HP:0002463	HP:0001344	Absent speech	2	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		24
HP:0002463	HP:0001344	Absent speech	2	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040282 - Frequent
HP:0002463	HP:0001344	Absent speech	2	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9	.		276
HP:0002463	HP:0001344	Absent speech	2	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0002463	HP:0001344	Absent speech	2	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103			3
HP:0002463	HP:0002474	Expressive language delay	2	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0002463	HP:0010863	Receptive language delay	2	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0002463	HP:0001344	Absent speech	2	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0002463	HP:0001344	Absent speech	2	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0002463	HP:0001344	Absent speech	2	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0002463	HP:0001344	Absent speech	2	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64	.
HP:0002463	HP:0001344	Absent speech	2	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27			25
HP:0002463	HP:0001344	Absent speech	2	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	.		2
HP:0002463	HP:0001344	Absent speech	2	LMAN2L CL E G H	81562	19263	OMIM:617863				1
HP:0002463	HP:0001344	Absent speech	2	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0002463	HP:0001344	Absent speech	2	LNPK CL E G H	80856	21610	OMIM:618090	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	.
HP:0002463	HP:0001344	Absent speech	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0002463	HP:0001344	Absent speech	2	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation	.		2
HP:0002463	HP:0001344	Absent speech	2	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0002463	HP:0001344	Absent speech	2	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57	.		5
HP:0002463	HP:0001344	Absent speech	2	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV	.		78
HP:0002463	HP:0001344	Absent speech	2	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040281 - Very frequent		78
HP:0002463	HP:0001344	Absent speech	2	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51	.		4
HP:0002463	HP:0001344	Absent speech	2	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0002463	HP:0001344	Absent speech	2	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0002463	HP:0001344	Absent speech	2	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040281 - Very frequent		950
HP:0002463	HP:0001344	Absent speech	2	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0002463	HP:0002474	Expressive language delay	2	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18			25
HP:0002463	HP:0001344	Absent speech	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040282 - Frequent		43
HP:0002463	HP:0001344	Absent speech	2	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20			132
HP:0002463	HP:0001344	Absent speech	2	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	.		17
HP:0002463	HP:0001344	Absent speech	2	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive	.		5
HP:0002463	HP:0001344	Absent speech	2	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0002463	HP:0001344	Absent speech	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0002463	HP:0001344	Absent speech	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0002463	HP:0001344	Absent speech	2	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF	.		32
HP:0002463	HP:0001344	Absent speech	2	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0002463	HP:0001344	Absent speech	2	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32	.		1
HP:0002463	HP:0001344	Absent speech	2	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0002463	HP:0001344	Absent speech	2	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	.		1
HP:0002463	HP:0001344	Absent speech	2	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040281 - Very frequent		48
HP:0002463	HP:0001344	Absent speech	2	NCAPD2 CL E G H	9918	24305	OMIM:617983	Microcephaly 21, primary, autosomal recessive	.
HP:0002463	HP:0001344	Absent speech	2	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.		2
HP:0002463	HP:0001344	Absent speech	2	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7	.		30
HP:0002463	HP:0001344	Absent speech	2	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0002463	HP:0001344	Absent speech	2	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type	HP:0040281 - Very frequent		52
HP:0002463	HP:0001344	Absent speech	2	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040282 - Frequent		40
HP:0002463	HP:0001344	Absent speech	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent		32
HP:0002463	HP:0001344	Absent speech	2	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0002463	HP:0001344	Absent speech	2	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		45
HP:0002463	HP:0001344	Absent speech	2	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		45
HP:0002463	HP:0001344	Absent speech	2	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0002463	HP:0002474	Expressive language delay	2	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		45
HP:0002463	HP:0001344	Absent speech	2	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional		37
HP:0002463	HP:0001344	Absent speech	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0002463	HP:0002474	Expressive language delay	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0002463	HP:0001344	Absent speech	2	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0002463	HP:0001344	Absent speech	2	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0002463	HP:0001344	Absent speech	2	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0002463	HP:0001344	Absent speech	2	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040283 - Occasional		121
HP:0002463	HP:0001344	Absent speech	2	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional		1
HP:0002463	HP:0001344	Absent speech	2	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0002463	HP:0001344	Absent speech	2	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent		4
HP:0002463	HP:0001344	Absent speech	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional		24
HP:0002463	HP:0001344	Absent speech	2	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome	.		24
HP:0002463	HP:0010863	Receptive language delay	2	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0002463	HP:0001344	Absent speech	2	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0002463	HP:0001344	Absent speech	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0002463	HP:0001344	Absent speech	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0002463	HP:0001344	Absent speech	2	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3	.		8
HP:0002463	HP:0001344	Absent speech	2	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.		46
HP:0002463	HP:0001344	Absent speech	2	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0002463	HP:0001344	Absent speech	2	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0002463	HP:0001344	Absent speech	2	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040283 - Occasional		7
HP:0002463	HP:0001344	Absent speech	2	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53	.		7
HP:0002463	HP:0001344	Absent speech	2	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.		37
HP:0002463	HP:0001344	Absent speech	2	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55	.		2
HP:0002463	HP:0001344	Absent speech	2	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0002463	HP:0001344	Absent speech	2	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0002463	HP:0001344	Absent speech	2	PIGW CL E G H	284098	23213	OMIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11	.		6
HP:0002463	HP:0001344	Absent speech	2	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0002463	HP:0001344	Absent speech	2	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040282 - Frequent		60
HP:0002463	HP:0001344	Absent speech	2	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6	.
HP:0002463	HP:0001344	Absent speech	2	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040283 - Occasional		60
HP:0002463	HP:0001344	Absent speech	2	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0002463	HP:0001344	Absent speech	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040283 - Occasional		35
HP:0002463	HP:0002474	Expressive language delay	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0002463	HP:0001344	Absent speech	2	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0002463	HP:0001344	Absent speech	2	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0002463	HP:0001344	Absent speech	2	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0002463	HP:0001344	Absent speech	2	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	.		213
HP:0002463	HP:0001344	Absent speech	2	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0002463	HP:0001344	Absent speech	2	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0002463	HP:0001344	Absent speech	2	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0002463	HP:0001344	Absent speech	2	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36	.		13
HP:0002463	HP:0001344	Absent speech	2	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040282 - Frequent		13
HP:0002463	HP:0001344	Absent speech	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040282 - Frequent		10
HP:0002463	HP:0001344	Absent speech	2	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35	.		10
HP:0002463	HP:0001344	Absent speech	2	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1	.		2
HP:0002463	HP:0001344	Absent speech	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		148
HP:0002463	HP:0001344	Absent speech	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0002463	HP:0001344	Absent speech	2	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.		49
HP:0002463	HP:0001344	Absent speech	2	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies			8
HP:0002463	HP:0001344	Absent speech	2	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0002463	HP:0001344	Absent speech	2	PSMB1 CL E G H	5689	9537	OMIM:620038				2
HP:0002463	HP:0001344	Absent speech	2	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0002463	HP:0001344	Absent speech	2	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0002463	HP:0001344	Absent speech	2	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		665
HP:0002463	HP:0001344	Absent speech	2	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		665
HP:0002463	HP:0001344	Absent speech	2	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0002463	HP:0002474	Expressive language delay	2	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		665
HP:0002463	HP:0002474	Expressive language delay	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent		19
HP:0002463	HP:0001344	Absent speech	2	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31	.		53
HP:0002463	HP:0001344	Absent speech	2	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional		1
HP:0002463	HP:0001344	Absent speech	2	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.		11
HP:0002463	HP:0001344	Absent speech	2	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040281 - Very frequent		11
HP:0002463	HP:0001344	Absent speech	2	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0002463	HP:0001344	Absent speech	2	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0002463	HP:0001344	Absent speech	2	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.		135
HP:0002463	HP:0001344	Absent speech	2	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0002463	HP:0001344	Absent speech	2	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48	.		3
HP:0002463	HP:0001344	Absent speech	2	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040282 - Frequent		3
HP:0002463	HP:0002474	Expressive language delay	2	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040281 - Very frequent		150
HP:0002463	HP:0001344	Absent speech	2	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0002463	HP:0001344	Absent speech	2	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0002463	HP:0001344	Absent speech	2	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.		93
HP:0002463	HP:0001344	Absent speech	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		16
HP:0002463	HP:0001344	Absent speech	2	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64	.		1
HP:0002463	HP:0001344	Absent speech	2	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.		26
HP:0002463	HP:0001344	Absent speech	2	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002463	HP:0001344	Absent speech	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040282 - Frequent		10
HP:0002463	HP:0002474	Expressive language delay	2	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0002463	HP:0001344	Absent speech	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0002463	HP:0001344	Absent speech	2	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040281 - Very frequent		34
HP:0002463	HP:0001344	Absent speech	2	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040282 - Frequent		34
HP:0002463	HP:0001344	Absent speech	2	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0002463	HP:0001344	Absent speech	2	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62			70
HP:0002463	HP:0002474	Expressive language delay	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		304
HP:0002463	HP:0002474	Expressive language delay	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		16
HP:0002463	HP:0002474	Expressive language delay	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		237
HP:0002463	HP:0002474	Expressive language delay	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		129
HP:0002463	HP:0001344	Absent speech	2	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome	.		47
HP:0002463	HP:0001344	Absent speech	2	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29	.		143
HP:0002463	HP:0010863	Receptive language delay	2	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0002463	HP:0002474	Expressive language delay	2	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0002463	HP:0010863	Receptive language delay	2	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0002463	HP:0001344	Absent speech	2	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0002463	HP:0001344	Absent speech	2	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		67
HP:0002463	HP:0001344	Absent speech	2	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		67
HP:0002463	HP:0001344	Absent speech	2	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0002463	HP:0002474	Expressive language delay	2	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		67
HP:0002463	HP:0002474	Expressive language delay	2	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0002463	HP:0001344	Absent speech	2	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0002463	HP:0001344	Absent speech	2	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type	HP:0040283 - Occasional		42
HP:0002463	HP:0001344	Absent speech	2	SIK1 CL E G H	150094	11142	OMIM:616341	Deafness, autosomal dominant 67			11
HP:0002463	HP:0001344	Absent speech	2	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0002463	HP:0001344	Absent speech	2	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		32
HP:0002463	HP:0001344	Absent speech	2	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0002463	HP:0001344	Absent speech	2	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0002463	HP:0002474	Expressive language delay	2	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		32
HP:0002463	HP:0001344	Absent speech	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		150
HP:0002463	HP:0001344	Absent speech	2	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0002463	HP:0001344	Absent speech	2	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0002463	HP:0001344	Absent speech	2	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0002463	HP:0001344	Absent speech	2	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41	.		3
HP:0002463	HP:0001344	Absent speech	2	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	.		4
HP:0002463	HP:0001344	Absent speech	2	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39	.		44
HP:0002463	HP:0001344	Absent speech	2	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.		255
HP:0002463	HP:0001344	Absent speech	2	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration	.		48
HP:0002463	HP:0001344	Absent speech	2	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0002463	HP:0001344	Absent speech	2	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0002463	HP:0001344	Absent speech	2	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0002463	HP:0001344	Absent speech	2	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48	.		12
HP:0002463	HP:0001344	Absent speech	2	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism	HP:0040282 - Frequent		13
HP:0002463	HP:0001344	Absent speech	2	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040281 - Very frequent		93
HP:0002463	HP:0001344	Absent speech	2	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0002463	HP:0001344	Absent speech	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.		146
HP:0002463	HP:0001344	Absent speech	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		617
HP:0002463	HP:0001344	Absent speech	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		87
HP:0002463	HP:0001344	Absent speech	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		1
HP:0002463	HP:0001344	Absent speech	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0002463	HP:0001344	Absent speech	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		47
HP:0002463	HP:0001344	Absent speech	2	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0002463	HP:0001344	Absent speech	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0002463	HP:0001344	Absent speech	2	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		135
HP:0002463	HP:0001344	Absent speech	2	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional		19
HP:0002463	HP:0001344	Absent speech	2	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0002463	HP:0001344	Absent speech	2	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional		37
HP:0002463	HP:0001344	Absent speech	2	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0002463	HP:0001344	Absent speech	2	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040282 - Frequent		14
HP:0002463	HP:0001344	Absent speech	2	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	.		14
HP:0002463	HP:0001344	Absent speech	2	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0002463	HP:0001344	Absent speech	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		14
HP:0002463	HP:0001344	Absent speech	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0002463	HP:0001344	Absent speech	2	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome	.		19
HP:0002463	HP:0010863	Receptive language delay	2	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0002463	HP:0002474	Expressive language delay	2	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0002463	HP:0001344	Absent speech	2	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040282 - Frequent		19
HP:0002463	HP:0001344	Absent speech	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		4
HP:0002463	HP:0001344	Absent speech	2	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0002463	HP:0001344	Absent speech	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002463	HP:0001344	Absent speech	2	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0002463	HP:0001344	Absent speech	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0002463	HP:0002474	Expressive language delay	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	.		138
HP:0002463	HP:0001344	Absent speech	2	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.		47
HP:0002463	HP:0001344	Absent speech	2	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0002463	HP:0001344	Absent speech	2	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0002463	HP:0001344	Absent speech	2	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0002463	HP:0001344	Absent speech	2	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		99
HP:0002463	HP:0001344	Absent speech	2	STIL CL E G H	6491	10879	OMIM:612703	Microcephaly 7, primary, autosomal recessive			99
HP:0002463	HP:0001344	Absent speech	2	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		99
HP:0002463	HP:0001344	Absent speech	2	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0002463	HP:0002474	Expressive language delay	2	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		99
HP:0002463	HP:0001344	Absent speech	2	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy	.		6
HP:0002463	HP:0001344	Absent speech	2	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040283 - Occasional		6
HP:0002463	HP:0001344	Absent speech	2	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4	.		237
HP:0002463	HP:0001344	Absent speech	2	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0002463	HP:0001344	Absent speech	2	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0002463	HP:0001344	Absent speech	2	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040283 - Occasional		108
HP:0002463	HP:0001344	Absent speech	2	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040281 - Very frequent		1
HP:0002463	HP:0002474	Expressive language delay	2	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0002463	HP:0001344	Absent speech	2	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome	HP:0040282 - Frequent		7
HP:0002463	HP:0001344	Absent speech	2	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	.		12
HP:0002463	HP:0001344	Absent speech	2	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0002463	HP:0001344	Absent speech	2	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040282 - Frequent		16
HP:0002463	HP:0001344	Absent speech	2	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0002463	HP:0001344	Absent speech	2	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO			52
HP:0002463	HP:0001344	Absent speech	2	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040283 - Occasional		22
HP:0002463	HP:0001344	Absent speech	2	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.		241
HP:0002463	HP:0001344	Absent speech	2	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040282 - Frequent		241
HP:0002463	HP:0001344	Absent speech	2	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24	.		76
HP:0002463	HP:0001344	Absent speech	2	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0002463	HP:0001344	Absent speech	2	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		1
HP:0002463	HP:0001344	Absent speech	2	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		1
HP:0002463	HP:0001344	Absent speech	2	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0002463	HP:0002474	Expressive language delay	2	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		1
HP:0002463	HP:0001344	Absent speech	2	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040282 - Frequent		12
HP:0002463	HP:0001344	Absent speech	2	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome	.		12
HP:0002463	HP:0001344	Absent speech	2	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002463	HP:0001344	Absent speech	2	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0002463	HP:0001344	Absent speech	2	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		32
HP:0002463	HP:0001344	Absent speech	2	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0002463	HP:0001344	Absent speech	2	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0002463	HP:0002474	Expressive language delay	2	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		32
HP:0002463	HP:0001344	Absent speech	2	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040283 - Occasional		1
HP:0002463	HP:0001344	Absent speech	2	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX	.		1
HP:0002463	HP:0001344	Absent speech	2	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects			4
HP:0002463	HP:0001344	Absent speech	2	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040282 - Frequent		4
HP:0002463	HP:0001344	Absent speech	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	HP:0040283 - Occasional		6
HP:0002463	HP:0001344	Absent speech	2	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0002463	HP:0001344	Absent speech	2	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0002463	HP:0001344	Absent speech	2	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20	HP:0040280 - Obligate		33
HP:0002463	HP:0001344	Absent speech	2	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8	.		5
HP:0002463	HP:0001344	Absent speech	2	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0002463	HP:0001344	Absent speech	2	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.		6
HP:0002463	HP:0001344	Absent speech	2	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0002463	HP:0001344	Absent speech	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0002463	HP:0001344	Absent speech	2	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0002463	HP:0001344	Absent speech	2	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18	HP:0040282 - Frequent		27
HP:0002463	HP:0001344	Absent speech	2	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	.
HP:0002463	HP:0001344	Absent speech	2	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0002463	HP:0001344	Absent speech	2	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0002463	HP:0001344	Absent speech	2	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0002463	HP:0001344	Absent speech	2	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0002463	HP:0001344	Absent speech	2	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35	.		12
HP:0002463	HP:0001344	Absent speech	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0002463	HP:0001344	Absent speech	2	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0002463	HP:0001344	Absent speech	2	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia	HP:0040281 - Very frequent		21
HP:0002463	HP:0002474	Expressive language delay	2	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent		64
HP:0002463	HP:0001344	Absent speech	2	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44	.		13
HP:0002463	HP:0010863	Receptive language delay	2	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum	HP:0040282 - Frequent
HP:0002463	HP:0001344	Absent speech	2	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0002463	HP:0001344	Absent speech	2	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0002463	HP:0001344	Absent speech	2	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional		278
HP:0002463	HP:0001344	Absent speech	2	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040283 - Occasional		278
HP:0002463	HP:0001344	Absent speech	2	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0002463	HP:0001344	Absent speech	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0002463	HP:0001344	Absent speech	2	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	HP:0040282 - Frequent		1
HP:0002463	HP:0001344	Absent speech	2	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth	.
HP:0002463	HP:0001344	Absent speech	2	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14	.
HP:0002463	HP:0001344	Absent speech	2	UFSP2 CL E G H	55325	25640	OMIM:620028				2
HP:0002463	HP:0001344	Absent speech	2	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0002463	HP:0001344	Absent speech	2	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0002463	HP:0001344	Absent speech	2	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040281 - Very frequent		23
HP:0002463	HP:0001344	Absent speech	2	UQCRQ CL E G H	27089	29594	OMIM:615159	Mitochondrial complex III deficiency, nuclear type 4	.		34
HP:0002463	HP:0001344	Absent speech	2	USP27X CL E G H	389856	13486	OMIM:300984	MENTAL RETARDATION, X-LINKED 105; MRX105			3
HP:0002463	HP:0001344	Absent speech	2	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0002463	HP:0001344	Absent speech	2	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome	.		2
HP:0002463	HP:0001344	Absent speech	2	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0002463	HP:0001344	Absent speech	2	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0002463	HP:0001344	Absent speech	2	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent		1
HP:0002463	HP:0001344	Absent speech	2	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent		1
HP:0002463	HP:0001344	Absent speech	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0002463	HP:0001344	Absent speech	2	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0002463	HP:0001344	Absent speech	2	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0002463	HP:0001344	Absent speech	2	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional		20
HP:0002463	HP:0001344	Absent speech	2	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	.		2
HP:0002463	HP:0002474	Expressive language delay	2	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3			2
HP:0002463	HP:0001344	Absent speech	2	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional		2
HP:0002463	HP:0001344	Absent speech	2	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional		8
HP:0002463	HP:0001344	Absent speech	2	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.		8
HP:0002463	HP:0001344	Absent speech	2	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0002463	HP:0001344	Absent speech	2	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations	.
HP:0002463	HP:0001344	Absent speech	2	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5	.		51
HP:0002463	HP:0001344	Absent speech	2	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	.		1
HP:0002463	HP:0002474	Expressive language delay	2	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002463	HP:0001344	Absent speech	2	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.		2
HP:0002463	HP:0001344	Absent speech	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional		7
HP:0002463	HP:0001344	Absent speech	2	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22	.		16
HP:0002463	HP:0001344	Absent speech	2	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0002463	HP:0001344	Absent speech	2	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0002463	HP:0001344	Absent speech	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040281 - Very frequent		362
HP:0002463	HP:0002474	Expressive language delay	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040281 - Very frequent		362
HP:0002463	HP:0001344	Absent speech	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040281 - Very frequent		362
HP:0002463	HP:0002474	Expressive language delay	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040281 - Very frequent		362
HP:0002463	HP:0001344	Absent speech	2	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0002463	HP:0001344	Absent speech	2	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		34
HP:0002463	HP:0001344	Absent speech	2	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		34
HP:0002463	HP:0001344	Absent speech	2	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0002463	HP:0002474	Expressive language delay	2	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		34
HP:0002463	HP:0001344	Absent speech	2	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.		5
HP:0002463	HP:0011345	Moderate expressive language delay	3	CL E G H
HP:0002463	HP:0011350	Mild receptive language delay	3	CL E G H
HP:0002463	HP:0011346	Mild expressive language delay	3	CL E G H
HP:0002463	HP:0006863	Severe expressive language delay	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0002463	HP:0006863	Severe expressive language delay	3	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent		145
HP:0002463	HP:0006863	Severe expressive language delay	3	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0002463	HP:0011351	Moderate receptive language delay	3	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		223
HP:0002463	HP:0006863	Severe expressive language delay	3	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		223
HP:0002463	HP:0011352	Severe receptive language delay	3	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0002463	HP:0006863	Severe expressive language delay	3	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional		30
HP:0002463	HP:0006863	Severe expressive language delay	3	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional		16
HP:0002463	HP:0011351	Moderate receptive language delay	3	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		99
HP:0002463	HP:0006863	Severe expressive language delay	3	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		99
HP:0002463	HP:0006863	Severe expressive language delay	3	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040282 - Frequent		35
HP:0002463	HP:0006863	Severe expressive language delay	3	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent		2
HP:0002463	HP:0011351	Moderate receptive language delay	3	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0002463	HP:0006863	Severe expressive language delay	3	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0002463	HP:0011351	Moderate receptive language delay	3	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0002463	HP:0011352	Severe receptive language delay	3	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040282 - Frequent		19
HP:0002463	HP:0006863	Severe expressive language delay	3	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040282 - Frequent		19
HP:0002463	HP:0006863	Severe expressive language delay	3	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040281 - Very frequent		21

Genes (1019) :AARS1 AASS ABCA7 ABHD16A ACAD8 ACADM ACADS ACBD5 ACOX1 ACOX2 ACSF3 ACSL4 ACTL6B ADAR ADARB1 ADAT3 ADCY5 ADD3 ADGRG1 ADGRL1 ADK ADNP ADSL AFF2 AGA AGO2 AGTPBP1 AHDC1 AIFM1 AIMP2 ALDH18A1 ALDH4A1 ALDH5A1 ALDH7A1 ALDOA ALG11 ALG12 ALG13 ALG14 ALG2 ALMS1 AMER1 AMMECR1 AMN ANK3 ANKRD11 ANKRD17 AP1G1 AP2M1 AP3B2 AP4B1 APC2 APP ARF1 ARFGEF1 ARHGAP29 ARHGEF2 ARID1A ARID1B ARID2 ARL13B ARL6 ARMC9 ARPC4 ARV1 ARX ASH1L ASPA ASPM ASXL1 ASXL2 ASXL3 ATAD3A ATG7 ATM ATN1 ATP10A ATP1A2 ATP1A3 ATP5F1D ATP6 ATP6AP2 ATP6V0A1 ATP6V0A2 ATP6V1A ATP6V1E1 ATXN3 AUH AUTS2 B3GALT6 BAP1 BBS1 BBS9 BCAS3 BCL11B BCORL1 BCR BIN1 BLTP1 BMP4 BMPR1B BPTF BRAT1 BRCA1 BRF1 BRPF1 BRWD3 BSCL2 BTK C12ORF4 C19ORF12 C2CD3 C9ORF72 CACNA1A CACNA1B CACNA1C CACNA1E CACNA2D1 CACNA2D2 CAMK2A CAMK2B CAMK2G CAMTA1 CARS1 CARS2 CASK CASZ1 CBL CC2D1A CCDC103 CCDC174 CCDC28B CCDC39 CCDC40 CCDC47 CCDC65 CCDC88A CCND2 CCNO CDC42 CDH1 CDK10 CDK13 CDK19 CDKN1C CDON CELF2 CENPJ CEP63 CERS1 CFAP221 CFAP298 CFAP300 CFAP418 CHAMP1 CHD2 CHD3 CHD5 CHD8 CHKA CHKB CHMP1A CHMP2B CIC CLCN3 CLCN4 CLDN11 CLIC2 CLN5 CLN8 CLP1 CLPB CLTC CNKSR2 CNNM2 CNOT1 CNOT2 CNTNAP2 COA8 COG1 COG4 COG5 COG6 COG8 COL3A1 COPB1 COX20 CPLX1 CRADD CRAT CRBN CREBBP CRKL CSNK2A1 CSPP1 CTBP1 CTCF CTNNA2 CUBN CUL3 CUL4B CWC27 CWF19L1 CYFIP2 DAG1 DALRD3 DARS2 DCC DCPS DCX DDX6 DEAF1 DEGS1 DENND5A DHDDS DHPS DHTKD1 DHX30 DISP1 DLG1 DLG3 DLK1 DLL1 DLX4 DMD DMPK DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC12 DNAL1 DNM1 DNM1L DNMT3A DOCK3 DOHH DOLK DPAGT1 DPF2 DPH5 DPM2 DPYD DPYS DPYSL5 DRC1 DYM DYNC1H1 DYNC1I2 DYNC2I2 DYRK1A EARS2 EBF3 EED EEF1A2 EFTUD2 EHMT1 EIF2AK1 EIF2AK2 EIF2S3 EIF3F EIF4A3 ELP2 EMC1 EMC10 EN1 EP300 ERCC2 ERF ERLIN2 ERMARD EXOSC2 EXOSC3 EXOSC5 EXT2 EXTL3 EZH2 FANCF FAR1 FARS2 FBLN1 FBXL3 FBXO11 FBXW11 FBXW7 FDXR FGF12 FGF13 FGF8 FGFR1 FIBP FIG4 FKRP FKTN FLCN FLII FLNA FMN2 FMR1 FOCAD FOXG1 FOXH1 FOXJ1 FOXP1 FOXP2 FOXRED1 FRA16E FRMD4A FRMPD4 FRRS1L FTCD FTSJ1 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRD GABRG2 GALE GALNT2 GALT GAMT GAS1 GAS2L2 GAS8 GATAD2B GATM GCDH GEMIN4 GEMIN5 GFM2 GJA5 GJA8 GJB1 GLI2 GLRA2 GLS GLYCTK GMNN GMPPA GMPPB GNAI1 GNAO1 GNAS GNB1 GNB2 GNB5 GNE GNPTAB GNS GORAB GOT2 GPAA1 GPC3 GPC4 GPT2 GRB10 GRHL3 GRIA1 GRIA2 GRIA3 GRIA4 GRID2 GRIK2 GRIN1 GRIN2A GRIN2B GRIN2D GRM1 GRN GSX2 H3-3A H4C11 H4C5 HACE1 HCN1 HCN4 HDAC4 HEPACAM HERC1 HERC2 HID1 HIKESHI HIVEP2 HK1 HMGA2 HNF1B HNMT HNRNPA1 HNRNPA2B1 HNRNPH1 HNRNPH2 HNRNPU HOXA2 HOXB1 HS2ST1 HS6ST2 HSD17B10 HSPG2 HTT HUWE1 HYDIN IARS1 IFIH1 IFT172 IFT74 IGF1R IGF2 INPP5E INTS1 INTS8 INTU IPW IQSEC1 IQSEC2 IRAK1 IREB2 IRF2BPL IRF6 ISCA2 ITPR1 JAG1 JAG2 KANSL1 KARS1 KAT6A KAT6B KAT8 KCNA1 KCNA2 KCNA4 KCNAB2 KCNB1 KCNC2 KCNH1 KCNJ10 KCNK4 KCNMA1 KCNN2 KCNQ5 KCTD7 KDM1A KDM3B KDM4B KDM5B KDM5C KIAA0586 KIAA0753 KIDINS220 KIF15 KIF1A KIF4A KIF5C KLHL15 KMT2A KMT2B KMT2C KMT2E KMT5B KNL1 KPTN KYNU L1CAM LAGE3 LAMA1 LARGE1 LAS1L LEMD3 LHX1 LIG4 LINGO1 LINS1 LIPT2 LMAN2L LMBRD2 LMNB1 LMNB2 LMX1B LNPK LRP5 LRPPRC LRRC32 LRRC56 LSS LTBP4 LUZP1 MACF1 MADD MAGEL2 MAN2B1 MAN2C1 MAP1B MAPK1 MAPRE2 MAPT MBD5 MBOAT7 MCIDAS MCM3AP MCOLN1 MCTP2 MDH2 MECP2 MED12 MED12L MED13 MED13L MED23 MED25 MED27 MEF2C MEG3 MEIS2 MESD METTL5 MFF MFSD2A MFSD8 MICU1 MINPP1 MKRN3 MKRN3-AS1 MKS1 MMP23B MN1 MORC2 MPDU1 MRAS MRE11 MRPL12 MRPS14 MRPS34 MSL3 MSTO1 MSX1 MTFMT MTPAP MYO9A MYRF MYT1L NAA15 NACC1 NALCN NARS1 NAXD NBEA NBN NCAPD2 NCAPG2 NCDN NDST1 NDUFA4 NDUFA8 NECAP1 NECTIN1 NEDD4L NEK1 NEK10 NEMF NEXMIF NF1 NFE2L2 NFIX NGLY1 NIPA1 NIPA2 NIPBL NLGN3 NLGN4X NME8 NODAL NONO NOTCH3 NOVA2 NPAP1 NR2F1 NR4A2 NRAS NSD1 NSDHL NSRP1 NSUN2 NTNG2 NTRK2 NUDT2 NUP107 NUP62 NUS1 NXN OCA2 ODAD1 ODAD2 ODAD3 ODAD4 ODC1 OFD1 OGDH OPHN1 ORC6 OSGEP OTUD6B PACS1 PACS2 PAFAH1B1 PAK1 PAK3 PARS2 PBX1 PCDH19 PCYT2 PDE2A PDE4D PDGFRA PDPN PEX1 PGAP1 PGAP2 PGK1 PHF21A PHF8 PHKA2 PHKB PHKG2 PI4KA PIGA PIGF PIGG PIGM PIGN PIGO PIGP PIGS PIGV PIGW PIK3R1 PLA2G6 PLAA PLAG1 PLCH1 PLP1 PLPBP PMM2 PMPCA PMPCB PNPT1 POGZ POLR1D POLR3B POLR3K POLRMT POMGNT2 POMT1 POMT2 POR POU3F3 POU4F1 PPFIBP1 PPIL1 PPM1D PPP1CB PPP2CA PPP2R1A PPP2R5D PPP3CA PRDM16 PRKAR1A PRKAR1B PRKCZ PRKD1 PRKRA PRMT7 PRNP PRODH PRPS1 PRR12 PRUNE1 PSEN1 PSEN2 PSMB1 PSMC1 PSMD12 PSMG2 PTCH1 PTEN PTS PUF60 PUM1 PURA PUS3 PUS7 PWAR1 PWRN1 PYCR1 PYCR2 QRICH1 RAB11B RAB18 RAB3GAP2 RAB5IF RAC1 RAI1 RALA RALGAPA1 RARS2 REPS1 RERE RFC1 RHOBTB2 RIMS2 RLIM RMND1 RNASET2 RNF125 RNU7-1 RORA RORB RPGR RPL10 RPS6KA3 RRM2B RRP7A RSPH1 RSPH3 RSPH4A RSPH9 RSPRY1 RSRC1 RTL1 RTTN RUBCN RUSC2 RYR1 SATB1 SATB2 SCN1A SCN3A SCN8A SCNM1 SDHA SDHAF1 SDHB SDHD SEC23A SELENOI SEMA6B SERAC1 SET SETBP1 SETD1A SETD1B SETD2 SETD5 SF3B4 SFXN4 SGCB SH2B1 SHANK3 SHH SHMT2 SHQ1 SHROOM4 SIAH1 SIK1 SIK3 SIM1 SIN3A SIX3 SKI SLC12A2 SLC12A6 SLC13A5 SLC16A2 SLC17A5 SLC1A2 SLC1A3 SLC1A4 SLC25A12 SLC25A42 SLC25A46 SLC2A1 SLC30A9 SLC33A1 SLC35A2 SLC38A3 SLC39A14 SLC44A1 SLC6A1 SLC6A17 SLC6A3 SLC6A8 SLC9A6 SLC9A7 SMAD6 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMG9 SMO SMS SNORD115-1 SNORD116-1 SNRPN SNX14 SOBP SOD1 SORL1 SOX11 SOX4 SOX5 SPAG1 SPARC SPART SPATA5 SPEF2 SPEG SPEN SPOP SPP1 SPR SPRED1 SPTBN1 SPTBN2 SPTBN4 SQSTM1 SRCAP SRPX2 ST3GAL5 STAG1 STAG2 STAT4 STIL STK36 STRADA STT3A STXBP1 SUOX SUPT16H SVBP SYNGAP1 SYNJ1 SYT1 SZT2 TAF1 TAF2 TAF8 TANC2 TANGO2 TAOK1 TBC1D20 TBC1D23 TBC1D24 TBC1D7 TBCD TBCE TBCK TBK1 TBL1XR1 TBR1 TBX1 TBX4 TCF20 TCF4 TCTN2 TDGF1 TECR TELO2 TENM3 TENT5A TET3 TFE3 TGIF1 TH THOC2 THOC6 THRB THUMPD1 TIAM1 TIMM50 TINF2 TKFC TKT TLK2 TM4SF20 TMCO1 TMEM106B TMEM147 TMEM222 TMEM231 TMEM63C TMEM94 TMLHE TMTC3 TNIK TNPO2 TNR TNRC6B TOE1 TOGARAM1 TOMM40 TOR1A TP53RK TP63 TPK1 TPP1 TPRN TRAF7 TRAK1 TRAPPC10 TRAPPC11 TRAPPC14 TRAPPC2L TRAPPC6B TRAPPC9 TREM2 TREX1 TRIM8 TRIO TRIP12 TRIP4 TRIT1 TRMT1 TRPV6 TRRAP TSEN15 TSHR TSPAN7 TSPOAP1 TTC12 TTC5 TTI2 TTN TUBA8 TUBB TUBB3 TUBB4A TUBG1 TWIST2 UBA2 UBA5 UBB UBE2A UBE3A UBE3B UBE4A UBE4B UBTF UFC1 UFM1 UFSP2 UGP2 UGT1A1 UNC80 UQCRQ USP27X USP7 USP9X VAC14 VARS1 VCP VLDLR VPS11 VPS33A VPS37A VPS41 VPS4A WAC WARS2 WASF1 WASHC4 WDR26 WDR37 WDR4 WDR45 WDR45B WDR62 WDR73 WDR81 WIPI2 WLS WWOX XRCC4 XYLT1 YARS1 YIF1B YME1L1 YWHAG YY1 ZBTB11 ZBTB18 ZBTB20 ZBTB7A ZC4H2 ZEB2 ZIC2 ZMIZ1 ZMYM2 ZMYND10 ZMYND11 ZNF142 ZNF292 ZNF407 ZNF462 ZNF711 ZSWIM6

Diseases (1094) :ORPHA:442835 ORPHA:2203 OMIM:238700 ORPHA:1020 OMIM:619735 ORPHA:79159 ORPHA:42 OMIM:201470 ORPHA:26792 OMIM:618863 OMIM:618960 OMIM:617308 ORPHA:289504 OMIM:300387 OMIM:618468 OMIM:618470 ORPHA:225154 OMIM:618862 ORPHA:363528 OMIM:619647 OMIM:619651 OMIM:617008 ORPHA:101070 ORPHA:98889 OMIM:615752 OMIM:620065 OMIM:614300 ORPHA:404448 OMIM:615873 OMIM:103050 ORPHA:46 ORPHA:100973 OMIM:309548 ORPHA:93 OMIM:208400 OMIM:619149 OMIM:618276 ORPHA:412069 OMIM:615829 ORPHA:238329 OMIM:618006 ORPHA:447760 OMIM:616586 ORPHA:79101 OMIM:271980 OMIM:266100 ORPHA:57 OMIM:613661 ORPHA:79324 ORPHA:324422 OMIM:619031 OMIM:607906 ORPHA:64 OMIM:300373 OMIM:300990 ORPHA:35858 ORPHA:356996 OMIM:615493 ORPHA:261250 OMIM:619504 OMIM:619467 OMIM:619548 ORPHA:1942 OMIM:617276 OMIM:614066 OMIM:618677 OMIM:617169 OMIM:618185 OMIM:619964 ORPHA:199306 OMIM:617523 ORPHA:1465 OMIM:614607 OMIM:135900 OMIM:617808 OMIM:612291 OMIM:209900 OMIM:617622 OMIM:620141 ORPHA:94083 OMIM:309510 OMIM:617796 ORPHA:314918 ORPHA:314911 OMIM:608716 ORPHA:97297 OMIM:617190 ORPHA:352577 OMIM:615485 OMIM:617183 OMIM:619422 OMIM:208900 OMIM:618494 ORPHA:411515 ORPHA:2131 OMIM:619605 OMIM:618120 OMIM:300423 ORPHA:93952 OMIM:619970 ORPHA:357074 ORPHA:2834 OMIM:278250 OMIM:617403 OMIM:618012 ORPHA:276238 ORPHA:276241 ORPHA:276244 ORPHA:67046 OMIM:250950 ORPHA:352490 OMIM:615834 ORPHA:536467 OMIM:619762 OMIM:615986 OMIM:619641 OMIM:617237 OMIM:618092 OMIM:301029 ORPHA:261330 ORPHA:169186 OMIM:617822 OMIM:607932 OMIM:616849 ORPHA:529962 OMIM:617755 OMIM:618056 OMIM:617883 OMIM:616202 OMIM:617333 OMIM:300659 OMIM:615924 ORPHA:363400 OMIM:300755 OMIM:618221 OMIM:614298 OMIM:615948 ORPHA:100070 OMIM:618497 OMIM:620029 OMIM:618285 OMIM:618501 OMIM:617798 OMIM:618095 OMIM:617799 OMIM:618522 OMIM:614756 ORPHA:314647 OMIM:618891 ORPHA:477774 OMIM:300749 ORPHA:163937 ORPHA:1606 OMIM:613563 OMIM:608443 ORPHA:244 OMIM:616816 OMIM:618268 OMIM:617507 OMIM:615938 ORPHA:487796 OMIM:616737 OMIM:617694 OMIM:617360 ORPHA:397590 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 ORPHA:280195 OMIM:619561 OMIM:608393 OMIM:614728 OMIM:616230 OMIM:617406 OMIM:616579 OMIM:618205 OMIM:619873 OMIM:615032 OMIM:620023 OMIM:602541 OMIM:614961 OMIM:617600 OMIM:619512 OMIM:619517 OMIM:300114 OMIM:619328 OMIM:300886 ORPHA:324410 ORPHA:228360 OMIM:600143 ORPHA:1947 ORPHA:411493 OMIM:615803 OMIM:619835 OMIM:617854 OMIM:301008 OMIM:616418 OMIM:619033 OMIM:618608 ORPHA:163681 OMIM:610042 OMIM:619061 ORPHA:436271 OMIM:611209 ORPHA:263501 OMIM:613489 OMIM:618150 ORPHA:263487 OMIM:613612 ORPHA:363523 OMIM:615328 OMIM:611182 OMIM:618343 OMIM:619255 OMIM:619054 OMIM:617976 ORPHA:352582 OMIM:614499 OMIM:617917 OMIM:607417 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:617062 ORPHA:397715 OMIM:617915 ORPHA:363611 OMIM:618174 OMIM:619239 OMIM:300354 ORPHA:85293 ORPHA:166035 OMIM:250410 ORPHA:453521 OMIM:616127 OMIM:618008 ORPHA:370997 OMIM:616538 OMIM:613818 OMIM:618910 ORPHA:137898 OMIM:617542 OMIM:616459 ORPHA:2148 OMIM:618653 OMIM:617171 ORPHA:468620 ORPHA:819 OMIM:618404 OMIM:617281 OMIM:617836 OMIM:618480 OMIM:204750 OMIM:617804 OMIM:300850 ORPHA:96184 ORPHA:254531 ORPHA:254525 ORPHA:98896 ORPHA:589821 OMIM:617384 OMIM:616346 ORPHA:330050 OMIM:618724 OMIM:618292 OMIM:620066 ORPHA:91131 ORPHA:86309 OMIM:618027 OMIM:620070 ORPHA:329178 ORPHA:293948 OMIM:274270 ORPHA:1675 OMIM:222748 OMIM:619435 ORPHA:239 OMIM:614228 OMIM:618492 OMIM:615633 ORPHA:268261 ORPHA:464311 OMIM:614104 OMIM:614924 OMIM:617330 OMIM:617561 OMIM:616409 OMIM:616393 OMIM:610536 ORPHA:79113 OMIM:610253 ORPHA:261652 OMIM:618878 OMIM:618877 OMIM:300148 OMIM:618295 OMIM:268305 OMIM:617270 OMIM:616875 ORPHA:480898 OMIM:619264 OMIM:619218 OMIM:618333 OMIM:613684 ORPHA:353284 OMIM:601675 OMIM:617180 OMIM:600775 ORPHA:209951 ORPHA:280384 OMIM:611225 ORPHA:75857 OMIM:615544 OMIM:617763 OMIM:614678 OMIM:619576 ORPHA:466926 ORPHA:508533 OMIM:277590 OMIM:603467 OMIM:619338 ORPHA:466722 ORPHA:404451 OMIM:606220 OMIM:618089 OMIM:618914 OMIM:620012 ORPHA:543470 OMIM:617166 OMIM:166250 OMIM:190440 ORPHA:500095 ORPHA:208441 OMIM:236670 ORPHA:272 OMIM:610883 OMIM:300321 OMIM:616193 ORPHA:449291 OMIM:619991 ORPHA:261144 OMIM:613454 ORPHA:391372 OMIM:613670 ORPHA:209908 OMIM:602081 OMIM:618241 OMIM:136570 OMIM:616819 ORPHA:466688 OMIM:300983 OMIM:616981 ORPHA:51208 OMIM:309549 OMIM:617904 OMIM:617829 OMIM:618396 OMIM:230350 OMIM:618885 ORPHA:79239 OMIM:612736 OMIM:615074 OMIM:612718 OMIM:231670 OMIM:617913 OMIM:619333 ORPHA:565624 OMIM:618397 OMIM:612474 ORPHA:101075 OMIM:301076 OMIM:618412 ORPHA:941 OMIM:616835 OMIM:615510 OMIM:615350 OMIM:619854 OMIM:615473 OMIM:617493 ORPHA:79445 ORPHA:488613 OMIM:616973 OMIM:619503 ORPHA:542306 OMIM:617173 OMIM:617182 ORPHA:3166 ORPHA:576 OMIM:252940 OMIM:231070 OMIM:618721 OMIM:617810 ORPHA:529665 OMIM:312870 OMIM:616281 ORPHA:477673 ORPHA:96182 ORPHA:99772 OMIM:619927 OMIM:619931 OMIM:618917 ORPHA:364028 OMIM:617864 OMIM:616204 OMIM:619580 OMIM:614254 OMIM:617820 OMIM:245570 ORPHA:98818 ORPHA:163721 OMIM:616139 OMIM:617162 ORPHA:324262 OMIM:617691 OMIM:614831 OMIM:618646 OMIM:619720 OMIM:619759 OMIM:619950 ORPHA:464282 OMIM:615871 OMIM:618482 OMIM:619521 OMIM:619797 OMIM:613925 OMIM:617011 ORPHA:457359 OMIM:615516 OMIM:176270 OMIM:619983 OMIM:616881 OMIM:616977 OMIM:618547 ORPHA:94063 ORPHA:261265 OMIM:616739 ORPHA:52430 OMIM:620083 OMIM:300986 ORPHA:238769 OMIM:617391 ORPHA:83463 OMIM:614744 OMIM:619194 OMIM:301025 ORPHA:391428 OMIM:300438 OMIM:617435 OMIM:309590 ORPHA:541423 OMIM:615846 OMIM:619471 OMIM:617119 OMIM:270450 OMIM:213300 OMIM:610156 ORPHA:75858 OMIM:618571 OMIM:618572 OMIM:617926 OMIM:618687 OMIM:309530 ORPHA:217377 ORPHA:397933 ORPHA:93552 OMIM:618451 OMIM:618088 OMIM:616370 OMIM:117360 ORPHA:208513 OMIM:118450 OMIM:619566 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:619147 OMIM:616268 ORPHA:85201 OMIM:618974 ORPHA:37612 OMIM:616366 OMIM:618284 OMIM:616056 OMIM:619913 ORPHA:420561 ORPHA:199343 OMIM:612780 OMIM:618381 OMIM:618729 OMIM:619725 OMIM:617601 OMIM:611726 OMIM:616728 ORPHA:477993 OMIM:618846 OMIM:619320 OMIM:618109 OMIM:300534 ORPHA:85279 OMIM:619479 OMIM:617296 ORPHA:261323 OMIM:614255 OMIM:300923 OMIM:615282 OMIM:300982 OMIM:605130 ORPHA:319182 OMIM:617284 OMIM:617768 OMIM:618512 OMIM:617788 OMIM:604321 ORPHA:397612 OMIM:615637 OMIM:617661 ORPHA:2466 OMIM:301006 ORPHA:370022 OMIM:615960 OMIM:309585 OMIM:606593 OMIM:618103 OMIM:614340 OMIM:617668 OMIM:617863 OMIM:619694 OMIM:619179 OMIM:619180 ORPHA:495818 OMIM:618090 ORPHA:2788 OMIM:220111 OMIM:619074 OMIM:618840 OMIM:618325 OMIM:619004 OMIM:619005 ORPHA:398069 OMIM:615547 ORPHA:309288 ORPHA:309282 OMIM:619775 OMIM:618918 OMIM:619087 OMIM:616734 OMIM:600274 OMIM:172700 ORPHA:240112 ORPHA:228402 OMIM:156200 OMIM:617188 OMIM:618124 OMIM:252650 ORPHA:578 ORPHA:1596 OMIM:617339 OMIM:300496 OMIM:300260 OMIM:300055 ORPHA:778 ORPHA:93932 OMIM:300895 OMIM:618872 OMIM:618009 ORPHA:369891 OMIM:614249 ORPHA:464738 OMIM:619286 ORPHA:228384 OMIM:613443 ORPHA:261190 OMIM:618644 OMIM:618665 OMIM:617086 OMIM:616486 OMIM:610951 OMIM:615673 OMIM:619527 OMIM:617121 OMIM:249000 OMIM:618774 OMIM:619090 OMIM:609180 OMIM:618499 ORPHA:251347 OMIM:618951 OMIM:618378 OMIM:617664 OMIM:301032 ORPHA:502423 OMIM:617675 OMIM:614947 OMIM:613672 OMIM:618198 OMIM:618113 OMIM:616521 OMIM:617787 OMIM:617393 OMIM:616266 ORPHA:371364 OMIM:619091 OMIM:619092 OMIM:618321 OMIM:619157 OMIM:251260 OMIM:617983 OMIM:618460 OMIM:619373 OMIM:616116 OMIM:619065 OMIM:619272 OMIM:617201 OMIM:263520 OMIM:619099 OMIM:300912 ORPHA:85277 ORPHA:97685 ORPHA:139474 OMIM:601321 OMIM:617744 ORPHA:447980 OMIM:602535 OMIM:614753 ORPHA:404454 ORPHA:261183 OMIM:122470 OMIM:300425 OMIM:300495 ORPHA:466791 OMIM:300967 ORPHA:136 OMIM:618859 ORPHA:401777 OMIM:619911 OMIM:613224 OMIM:117550 OMIM:300831 ORPHA:251383 OMIM:620001 OMIM:611091 OMIM:618718 OMIM:617830 OMIM:619844 OMIM:618348 OMIM:616730 OMIM:617831 OMIM:618529 ORPHA:98794 OMIM:619075 ORPHA:544488 OMIM:203740 OMIM:300486 OMIM:613803 OMIM:617729 ORPHA:505237 OMIM:617452 ORPHA:329224 OMIM:615009 OMIM:618067 ORPHA:95232 OMIM:618158 OMIM:300558 OMIM:618437 OMIM:617641 ORPHA:101039 OMIM:618770 OMIM:619150 OMIM:614613 ORPHA:280651 OMIM:214100 OMIM:601539 OMIM:615802 OMIM:614207 ORPHA:713 OMIM:300653 OMIM:618725 OMIM:300263 ORPHA:264580 ORPHA:79240 OMIM:619708 OMIM:300868 OMIM:301072 OMIM:619356 ORPHA:488635 OMIM:616917 OMIM:610293 OMIM:614080 OMIM:614749 OMIM:617599 OMIM:618143 OMIM:239300 OMIM:616025 OMIM:269880 ORPHA:35069 OMIM:256600 OMIM:610217 ORPHA:521426 OMIM:312080 ORPHA:280219 ORPHA:280210 OMIM:617290 OMIM:212065 ORPHA:79318 ORPHA:1170 OMIM:213200 OMIM:617954 ORPHA:319514 OMIM:614932 ORPHA:468678 OMIM:616364 OMIM:613717 OMIM:619742 OMIM:614381 OMIM:619310 OMIM:619743 OMIM:618135 OMIM:613155 ORPHA:86812 ORPHA:95699 OMIM:618604 OMIM:620024 OMIM:619301 OMIM:617450 OMIM:617506 OMIM:618354 OMIM:616362 ORPHA:457284 ORPHA:457279 OMIM:616355 OMIM:617711 OMIM:619680 ORPHA:412066 OMIM:617364 OMIM:612067 OMIM:617157 ORPHA:157941 OMIM:239500 OMIM:301835 ORPHA:99014 OMIM:619539 OMIM:617481 ORPHA:544469 OMIM:620038 OMIM:620071 OMIM:617516 OMIM:619183 ORPHA:13 ORPHA:508488 OMIM:617931 OMIM:616158 ORPHA:314655 ORPHA:488627 OMIM:618342 OMIM:614438 OMIM:616420 ORPHA:481152 OMIM:617982 OMIM:617807 OMIM:614222 OMIM:212720 OMIM:614225 OMIM:616994 OMIM:617751 ORPHA:500159 ORPHA:1713 ORPHA:477817 OMIM:182290 OMIM:619311 OMIM:618797 OMIM:611523 OMIM:617916 ORPHA:504476 OMIM:618004 OMIM:618970 OMIM:300978 OMIM:614922 OMIM:612951 OMIM:616260 OMIM:619487 OMIM:618060 OMIM:618357 OMIM:300998 ORPHA:459070 OMIM:300844 OMIM:268315 OMIM:619453 ORPHA:457395 OMIM:618402 OMIM:614833 ORPHA:404499 OMIM:615705 OMIM:617773 OMIM:619228 OMIM:619229 ORPHA:251019 OMIM:612313 ORPHA:251028 ORPHA:576283 OMIM:619317 OMIM:617935 OMIM:617938 OMIM:614306 OMIM:620107 ORPHA:3208 OMIM:619224 ORPHA:50814 OMIM:618768 OMIM:618876 OMIM:614739 OMIM:618106 ORPHA:436151 OMIM:616078 OMIM:619056 OMIM:619000 OMIM:616831 ORPHA:404440 OMIM:615761 OMIM:154400 ORPHA:245 OMIM:615578 ORPHA:119 ORPHA:261222 ORPHA:261197 ORPHA:329249 ORPHA:48652 OMIM:606232 OMIM:619121 OMIM:619922 ORPHA:85288 OMIM:619314 OMIM:616341 OMIM:618162 ORPHA:171829 ORPHA:398079 OMIM:613406 OMIM:619083 OMIM:619080 OMIM:218000 ORPHA:59 OMIM:604369 OMIM:617105 OMIM:616657 ORPHA:447997 OMIM:612949 OMIM:618416 OMIM:616505 ORPHA:71277 OMIM:606777 OMIM:608885 OMIM:617595 OMIM:614482 OMIM:300896 OMIM:619881 OMIM:617013 OMIM:618868 OMIM:616269 ORPHA:238455 OMIM:300352 ORPHA:52503 ORPHA:85278 OMIM:300243 OMIM:301024 OMIM:617439 OMIM:619293 ORPHA:2728 OMIM:601358 OMIM:618362 OMIM:618779 OMIM:616938 OMIM:301044 OMIM:619995 OMIM:241800 ORPHA:3063 OMIM:105830 OMIM:209850 ORPHA:177907 ORPHA:397709 OMIM:616354 OMIM:613671 OMIM:618598 ORPHA:313892 OMIM:616803 OMIM:616507 ORPHA:101000 OMIM:616577 ORPHA:457351 OMIM:619312 OMIM:618828 OMIM:618829 ORPHA:70594 ORPHA:137605 OMIM:619475 ORPHA:352403 OMIM:615386 OMIM:617519 OMIM:616437 OMIM:619595 OMIM:136140 ORPHA:2044 OMIM:609056 OMIM:617635 OMIM:301022 OMIM:612703 OMIM:611087 ORPHA:500533 OMIM:619714 OMIM:612164 OMIM:272300 OMIM:619480 OMIM:618569 OMIM:612621 ORPHA:544254 ORPHA:522077 OMIM:300966 ORPHA:480907 OMIM:615599 ORPHA:397951 OMIM:619972 OMIM:618906 OMIM:616878 ORPHA:480864 OMIM:619575 OMIM:615663 OMIM:617695 OMIM:248000 ORPHA:496641 OMIM:617193 OMIM:617207 OMIM:616900 ORPHA:488632 OMIM:616439 ORPHA:487825 OMIM:602342 OMIM:606053 ORPHA:1727 OMIM:188400 ORPHA:261279 OMIM:618430 ORPHA:2896 OMIM:610954 OMIM:616654 OMIM:614020 ORPHA:488642 OMIM:616954 OMIM:615145 OMIM:617952 OMIM:618798 OMIM:301066 ORPHA:101150 OMIM:605407 OMIM:300957 ORPHA:457240 ORPHA:363444 OMIM:188570 OMIM:619989 OMIM:619908 ORPHA:505216 OMIM:617698 OMIM:613990 OMIM:618805 OMIM:617044 ORPHA:488618 OMIM:618050 OMIM:615432 OMIM:213980 OMIM:617964 OMIM:620075 OMIM:619470 OMIM:614970 OMIM:619966 OMIM:618316 OMIM:300872 OMIM:617255 OMIM:617028 OMIM:619556 OMIM:619653 OMIM:619243 OMIM:614969 OMIM:619185 OMIM:618947 OMIM:617730 OMIM:614458 OMIM:204500 OMIM:613307 OMIM:618164 OMIM:620027 ORPHA:369840 OMIM:618351 OMIM:618331 OMIM:617862 OMIM:613192 OMIM:225750 OMIM:619428 OMIM:618825 OMIM:617061 ORPHA:476126 OMIM:617752 ORPHA:486815 OMIM:617873 OMIM:618302 OMIM:618188 OMIM:618454 OMIM:617026 OMIM:609152 OMIM:300210 OMIM:619244 OMIM:615541 ORPHA:391307 ORPHA:250972 OMIM:615771 OMIM:156610 ORPHA:300570 OMIM:614039 OMIM:612438 ORPHA:920 OMIM:200110 OMIM:209885 OMIM:619959 OMIM:617132 OMIM:300860 ORPHA:238446 OMIM:244450 OMIM:619639 ORPHA:500180 OMIM:618076 OMIM:617899 OMIM:620028 OMIM:618744 ORPHA:79234 OMIM:616801 OMIM:615159 OMIM:300984 ORPHA:500055 OMIM:616863 OMIM:300968 OMIM:617054 OMIM:617802 OMIM:224050 OMIM:616683 ORPHA:466934 ORPHA:505248 OMIM:617303 ORPHA:319199 OMIM:614898 OMIM:619389 OMIM:619273 OMIM:616708 ORPHA:284169 ORPHA:466950 OMIM:617710 OMIM:619738 ORPHA:572798 OMIM:618707 OMIM:615817 ORPHA:513456 OMIM:617616 OMIM:618652 OMIM:618347 OMIM:618346 OMIM:300894 OMIM:617977 OMIM:604317 OMIM:251300 OMIM:610185 OMIM:618453 OMIM:619648 ORPHA:284282 OMIM:616541 OMIM:615777 OMIM:619418 OMIM:619125 OMIM:617302 OMIM:617557 ORPHA:506358 OMIM:618383 OMIM:612337 OMIM:259050 OMIM:619769 OMIM:314580 OMIM:301041 OMIM:235730 ORPHA:261552 ORPHA:261537 OMIM:618659 OMIM:619522 OMIM:616083 OMIM:618425 OMIM:619188 OMIM:619557 OMIM:618619 OMIM:300803 OMIM:617865

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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