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:
Neurodevelopmental abnormality (HP:0012759)

Parent Node:
Neurodevelopmental delay (HP:0012758)

..Starting node
..Motor delay (HP:0001270)

Term ID:

1270

Name:

Motor delay

Synonym:

Delay in motor development; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; No development of motor milestones; Retarded motor development

Definition:

A type of Developmental delay characterized by a delay in acquiring motor skills.

Comments:

Reference:

HP:0001270

Genes and Diseases:

Child Nodes:

........

Delayed gross motor development (HP:0002194)

................... HP:0025335 Delayed ability to stand
................... HP:0025336 Delayed ability to sit

........

Delayed fine motor development (HP:0010862)

Sister Nodes:

Delayed social development (HP:0012434)

Delayed speech and language development (HP:0000750)

Global developmental delay (HP:0001263)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001270	HP:0001270	Motor delay	0	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0001270	HP:0001270	Motor delay	0	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0001270	HP:0001270	Motor delay	0	ABCC8 CL E G H	6833	59	OMIM:618857	DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3		245
HP:0001270	HP:0001270	Motor delay	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	245
HP:0001270	HP:0001270	Motor delay	0	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency	.	111
HP:0001270	HP:0001270	Motor delay	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040283 - Occasional	91
HP:0001270	HP:0001270	Motor delay	0	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0001270	HP:0001270	Motor delay	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional	16
HP:0001270	HP:0001270	Motor delay	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	96
HP:0001270	HP:0001270	Motor delay	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	96
HP:0001270	HP:0001270	Motor delay	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	96
HP:0001270	HP:0001270	Motor delay	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0001270	HP:0001270	Motor delay	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	96
HP:0001270	HP:0001270	Motor delay	0	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset		72
HP:0001270	HP:0001270	Motor delay	0	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0001270	HP:0001270	Motor delay	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0001270	HP:0001270	Motor delay	0	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome	HP:0040282 - Frequent	22
HP:0001270	HP:0001270	Motor delay	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0001270	HP:0001270	Motor delay	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0001270	HP:0001270	Motor delay	0	ADCY5 CL E G H	111	236	OMIM:619647	DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR		25
HP:0001270	HP:0001270	Motor delay	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia	HP:0040283 - Occasional	25
HP:0001270	HP:0001270	Motor delay	0	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia		25
HP:0001270	HP:0001270	Motor delay	0	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD		25
HP:0001270	HP:0001270	Motor delay	0	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040281 - Very frequent	88
HP:0001270	HP:0001270	Motor delay	0	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0001270	HP:0001270	Motor delay	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0001270	HP:0001270	Motor delay	0	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome	.	82
HP:0001270	HP:0001270	Motor delay	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0001270	HP:0001270	Motor delay	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		127
HP:0001270	HP:0001270	Motor delay	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	127
HP:0001270	HP:0001270	Motor delay	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy	.	1
HP:0001270	HP:0001270	Motor delay	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1		1
HP:0001270	HP:0001270	Motor delay	0	AHCY CL E G H	191	343	OMIM:613752	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY	.	31
HP:0001270	HP:0001270	Motor delay	0	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:0001270	HP:0001270	Motor delay	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome		36
HP:0001270	HP:0001270	Motor delay	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.	175
HP:0001270	HP:0001270	Motor delay	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		1
HP:0001270	HP:0001270	Motor delay	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0001270	HP:0001270	Motor delay	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040282 - Frequent	89
HP:0001270	HP:0001270	Motor delay	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency		108
HP:0001270	HP:0001270	Motor delay	0	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency	HP:0040283 - Occasional	50
HP:0001270	HP:0001270	Motor delay	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0001270	HP:0001270	Motor delay	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	12
HP:0001270	HP:0001270	Motor delay	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0001270	HP:0001270	Motor delay	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	46
HP:0001270	HP:0001270	Motor delay	0	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14	HP:0040283 - Occasional	46
HP:0001270	HP:0001270	Motor delay	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0001270	HP:0001270	Motor delay	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		114
HP:0001270	HP:0001270	Motor delay	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.	114
HP:0001270	HP:0001270	Motor delay	0	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome		25
HP:0001270	HP:0001270	Motor delay	0	AMPD2 CL E G H	271	469	ORPHA:401805	Autosomal recessive spastic paraplegia type 63		21
HP:0001270	HP:0001270	Motor delay	0	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive		21
HP:0001270	HP:0001270	Motor delay	0	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0001270	HP:0001270	Motor delay	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0001270	HP:0001270	Motor delay	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	HP:0040284 - Very rare	8
HP:0001270	HP:0001270	Motor delay	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0001270	HP:0001270	Motor delay	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0001270	HP:0001270	Motor delay	0	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10		1
HP:0001270	HP:0001270	Motor delay	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.	3
HP:0001270	HP:0001270	Motor delay	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	.	1
HP:0001270	HP:0001270	Motor delay	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0001270	HP:0001270	Motor delay	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6	.	25
HP:0001270	HP:0001270	Motor delay	0	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8		62
HP:0001270	HP:0001270	Motor delay	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0001270	HP:0001270	Motor delay	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis	.	78
HP:0001270	HP:0001270	Motor delay	0	ASPA CL E G H	443	756	ORPHA:314918	Mild Canavan disease	HP:0040282 - Frequent	48
HP:0001270	HP:0001270	Motor delay	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040281 - Very frequent	48
HP:0001270	HP:0001270	Motor delay	0	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive	.	512
HP:0001270	HP:0001270	Motor delay	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0001270	HP:0001270	Motor delay	0	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25		1
HP:0001270	HP:0001270	Motor delay	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0001270	HP:0001270	Motor delay	0	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3	HP:0040283 - Occasional	71
HP:0001270	HP:0001270	Motor delay	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.	71
HP:0001270	HP:0001270	Motor delay	0	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13		4
HP:0001270	HP:0001270	Motor delay	0	ATP1A1 CL E G H	476	799	ORPHA:564178	Primary hypomagnesemia with refractory seizures and intellectual disability		4
HP:0001270	HP:0001270	Motor delay	0	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism	HP:0040282 - Frequent	150
HP:0001270	HP:0001270	Motor delay	0	ATP2A1 CL E G H	487	811	OMIM:601003	BRODY MYOPATHY		80
HP:0001270	HP:0001270	Motor delay	0	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1	.	19
HP:0001270	HP:0001270	Motor delay	0	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia	HP:0040282 - Frequent	19
HP:0001270	HP:0001270	Motor delay	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0001270	HP:0001270	Motor delay	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040282 - Frequent	36
HP:0001270	HP:0001270	Motor delay	0	ATP6V0A1 CL E G H	535	865	OMIM:619970			1
HP:0001270	HP:0001270	Motor delay	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0001270	HP:0001270	Motor delay	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0001270	HP:0001270	Motor delay	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0001270	HP:0001270	Motor delay	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.	3
HP:0001270	HP:0001270	Motor delay	0	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3		3
HP:0001270	HP:0001270	Motor delay	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0001270	HP:0001270	Motor delay	0	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040282 - Frequent	8
HP:0001270	HP:0001270	Motor delay	0	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I	.	49
HP:0001270	HP:0001270	Motor delay	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0001270	HP:0001270	Motor delay	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	38
HP:0001270	HP:0001270	Motor delay	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		5
HP:0001270	HP:0001270	Motor delay	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0001270	HP:0001270	Motor delay	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0001270	HP:0001270	Motor delay	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS		2
HP:0001270	HP:0001270	Motor delay	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES		3
HP:0001270	HP:0001270	Motor delay	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0001270	HP:0001270	Motor delay	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.	101
HP:0001270	HP:0001270	Motor delay	0	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome		17
HP:0001270	HP:0001270	Motor delay	0	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	HP:0040283 - Occasional	46
HP:0001270	HP:0001270	Motor delay	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant	.	46
HP:0001270	HP:0001270	Motor delay	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.	46
HP:0001270	HP:0001270	Motor delay	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy		99
HP:0001270	HP:0001270	Motor delay	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent	99
HP:0001270	HP:0001270	Motor delay	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.	99
HP:0001270	HP:0001270	Motor delay	0	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII		49
HP:0001270	HP:0001270	Motor delay	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	385
HP:0001270	HP:0001270	Motor delay	0	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL		2
HP:0001270	HP:0001270	Motor delay	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures		20
HP:0001270	HP:0001270	Motor delay	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis		10
HP:0001270	HP:0001270	Motor delay	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.	53
HP:0001270	HP:0001270	Motor delay	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent	53
HP:0001270	HP:0001270	Motor delay	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0001270	HP:0001270	Motor delay	0	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0001270	HP:0001270	Motor delay	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0001270	HP:0001270	Motor delay	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001270	HP:0001270	Motor delay	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.	85
HP:0001270	HP:0001270	Motor delay	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001270	HP:0001270	Motor delay	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0001270	HP:0001270	Motor delay	0	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0001270	HP:0001270	Motor delay	0	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4		25
HP:0001270	HP:0001270	Motor delay	0	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001270	HP:0001270	Motor delay	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0001270	HP:0001270	Motor delay	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0001270	HP:0001270	Motor delay	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0001270	HP:0001270	Motor delay	0	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia		3
HP:0001270	HP:0001270	Motor delay	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001270	HP:0001270	Motor delay	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome		405
HP:0001270	HP:0001270	Motor delay	0	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder		405
HP:0001270	HP:0001270	Motor delay	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent	114
HP:0001270	HP:0001270	Motor delay	0	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0001270	HP:0001270	Motor delay	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0001270	HP:0001270	Motor delay	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0001270	HP:0001270	Motor delay	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	65
HP:0001270	HP:0001270	Motor delay	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome		2
HP:0001270	HP:0001270	Motor delay	0	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0001270	HP:0001270	Motor delay	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0001270	HP:0001270	Motor delay	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0001270	HP:0001270	Motor delay	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0001270	HP:0001270	Motor delay	0	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type	.	53
HP:0001270	HP:0001270	Motor delay	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0001270	HP:0001270	Motor delay	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.	74
HP:0001270	HP:0001270	Motor delay	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		74
HP:0001270	HP:0001270	Motor delay	0	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel		53
HP:0001270	HP:0001270	Motor delay	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		53
HP:0001270	HP:0001270	Motor delay	0	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel		88
HP:0001270	HP:0001270	Motor delay	0	CHRND CL E G H	1144	1965	OMIM:616323	Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency		88
HP:0001270	HP:0001270	Motor delay	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		88
HP:0001270	HP:0001270	Motor delay	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	139
HP:0001270	HP:0001270	Motor delay	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		139
HP:0001270	HP:0001270	Motor delay	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0001270	HP:0001270	Motor delay	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0001270	HP:0001270	Motor delay	0	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia	HP:0040282 - Frequent	165
HP:0001270	HP:0001270	Motor delay	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		165
HP:0001270	HP:0001270	Motor delay	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0001270	HP:0001270	Motor delay	0	CIB2 CL E G H	10518	24579	OMIM:614869	Usher syndrome, type IJ	.	15
HP:0001270	HP:0001270	Motor delay	0	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45		39
HP:0001270	HP:0001270	Motor delay	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0001270	HP:0001270	Motor delay	0	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0001270	HP:0001270	Motor delay	0	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0001270	HP:0001270	Motor delay	0	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development		102
HP:0001270	HP:0001270	Motor delay	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	9
HP:0001270	HP:0001270	Motor delay	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent	9
HP:0001270	HP:0001270	Motor delay	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	27
HP:0001270	HP:0001270	Motor delay	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent	27
HP:0001270	HP:0001270	Motor delay	0	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0001270	HP:0001270	Motor delay	0	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10		7
HP:0001270	HP:0001270	Motor delay	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7		38
HP:0001270	HP:0001270	Motor delay	0	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG		18
HP:0001270	HP:0001270	Motor delay	0	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS		2
HP:0001270	HP:0001270	Motor delay	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:0001270	HP:0001270	Motor delay	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0001270	HP:0001270	Motor delay	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0001270	HP:0001270	Motor delay	0	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1		518
HP:0001270	HP:0001270	Motor delay	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0001270	HP:0001270	Motor delay	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0001270	HP:0001270	Motor delay	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.	67
HP:0001270	HP:0001270	Motor delay	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040281 - Very frequent	79
HP:0001270	HP:0001270	Motor delay	0	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I		79
HP:0001270	HP:0001270	Motor delay	0	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2		65
HP:0001270	HP:0001270	Motor delay	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040282 - Frequent	65
HP:0001270	HP:0001270	Motor delay	0	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2		65
HP:0001270	HP:0001270	Motor delay	0	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19	HP:0040283 - Occasional	6
HP:0001270	HP:0001270	Motor delay	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		6
HP:0001270	HP:0001270	Motor delay	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	6
HP:0001270	HP:0001270	Motor delay	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0001270	HP:0001270	Motor delay	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1		373
HP:0001270	HP:0001270	Motor delay	0	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2		243
HP:0001270	HP:0001270	Motor delay	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284
HP:0001270	HP:0001270	Motor delay	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0001270	HP:0001270	Motor delay	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040283 - Occasional	284
HP:0001270	HP:0001270	Motor delay	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	HP:0040284 - Very rare	749
HP:0001270	HP:0001270	Motor delay	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0001270	HP:0001270	Motor delay	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0001270	HP:0001270	Motor delay	0	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.	442
HP:0001270	HP:0001270	Motor delay	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0001270	HP:0001270	Motor delay	0	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.	478
HP:0001270	HP:0001270	Motor delay	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0001270	HP:0001270	Motor delay	0	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.	702
HP:0001270	HP:0001270	Motor delay	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0001270	HP:0001270	Motor delay	0	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0001270	HP:0001270	Motor delay	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.	54
HP:0001270	HP:0001270	Motor delay	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8	.	1
HP:0001270	HP:0001270	Motor delay	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001270	HP:0001270	Motor delay	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0001270	HP:0001270	Motor delay	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001270	HP:0001270	Motor delay	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001270	HP:0001270	Motor delay	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0001270	HP:0001270	Motor delay	0	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63		1
HP:0001270	HP:0001270	Motor delay	0	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional	1
HP:0001270	HP:0001270	Motor delay	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0001270	HP:0001270	Motor delay	0	CRAT CL E G H	1384	2342	OMIM:617917	Neurodegeneration with brain iron accumulation 8	.
HP:0001270	HP:0001270	Motor delay	0	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2		19
HP:0001270	HP:0001270	Motor delay	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0001270	HP:0001270	Motor delay	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent
HP:0001270	HP:0001270	Motor delay	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001270	HP:0001270	Motor delay	0	CSNK2B CL E G H	1460	2460	OMIM:618732	POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS		2
HP:0001270	HP:0001270	Motor delay	0	CTBP1 CL E G H	1487	2494	OMIM:617915	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	.	2
HP:0001270	HP:0001270	Motor delay	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.	17
HP:0001270	HP:0001270	Motor delay	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	88
HP:0001270	HP:0001270	Motor delay	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects		88
HP:0001270	HP:0001270	Motor delay	0	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040281 - Very frequent	88
HP:0001270	HP:0001270	Motor delay	0	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome		273
HP:0001270	HP:0001270	Motor delay	0	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0001270	HP:0001270	Motor delay	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0001270	HP:0001270	Motor delay	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome		4
HP:0001270	HP:0001270	Motor delay	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0001270	HP:0001270	Motor delay	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	41
HP:0001270	HP:0001270	Motor delay	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0001270	HP:0001270	Motor delay	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	5
HP:0001270	HP:0001270	Motor delay	0	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive	.	18
HP:0001270	HP:0001270	Motor delay	0	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3		2
HP:0001270	HP:0001270	Motor delay	0	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	HP:0040282 - Frequent	108
HP:0001270	HP:0001270	Motor delay	0	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy		108
HP:0001270	HP:0001270	Motor delay	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0001270	HP:0001270	Motor delay	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040283 - Occasional	60
HP:0001270	HP:0001270	Motor delay	0	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation	.	60
HP:0001270	HP:0001270	Motor delay	0	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1	.	145
HP:0001270	HP:0001270	Motor delay	0	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR		62
HP:0001270	HP:0001270	Motor delay	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0001270	HP:0001270	Motor delay	0	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language		4
HP:0001270	HP:0001270	Motor delay	0	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency		82
HP:0001270	HP:0001270	Motor delay	0	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency		82
HP:0001270	HP:0001270	Motor delay	0	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90		30
HP:0001270	HP:0001270	Motor delay	0	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation		1
HP:0001270	HP:0001270	Motor delay	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040281 - Very frequent	1
HP:0001270	HP:0001270	Motor delay	0	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040281 - Very frequent	1
HP:0001270	HP:0001270	Motor delay	0	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040281 - Very frequent	1
HP:0001270	HP:0001270	Motor delay	0	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent	1496
HP:0001270	HP:0001270	Motor delay	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy		1496
HP:0001270	HP:0001270	Motor delay	0	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome	.	3
HP:0001270	HP:0001270	Motor delay	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia		25
HP:0001270	HP:0001270	Motor delay	0	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0001270	HP:0001270	Motor delay	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0001270	HP:0001270	Motor delay	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy		167
HP:0001270	HP:0001270	Motor delay	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant	.	167
HP:0001270	HP:0001270	Motor delay	0	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia		3
HP:0001270	HP:0001270	Motor delay	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		91
HP:0001270	HP:0001270	Motor delay	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0001270	HP:0001270	Motor delay	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	38
HP:0001270	HP:0001270	Motor delay	0	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates	.	38
HP:0001270	HP:0001270	Motor delay	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001270	HP:0001270	Motor delay	0	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0001270	HP:0001270	Motor delay	0	DPM3 CL E G H	54344	3007	OMIM:618992	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15		9
HP:0001270	HP:0001270	Motor delay	0	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency	.	144
HP:0001270	HP:0001270	Motor delay	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001270	HP:0001270	Motor delay	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2		13
HP:0001270	HP:0001270	Motor delay	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0001270	HP:0001270	Motor delay	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040282 - Frequent	65
HP:0001270	HP:0001270	Motor delay	0	DYNC1H1 CL E G H	1778	2961	OMIM:614228	Charcot-marie-tooth disease, axonal, type 2O	.	427
HP:0001270	HP:0001270	Motor delay	0	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant		427
HP:0001270	HP:0001270	Motor delay	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies		1
HP:0001270	HP:0001270	Motor delay	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040282 - Frequent	134
HP:0001270	HP:0001270	Motor delay	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0001270	HP:0001270	Motor delay	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent	45
HP:0001270	HP:0001270	Motor delay	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	58
HP:0001270	HP:0001270	Motor delay	0	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive	.	58
HP:0001270	HP:0001270	Motor delay	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	223
HP:0001270	HP:0001270	Motor delay	0	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0001270	HP:0001270	Motor delay	0	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0001270	HP:0001270	Motor delay	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0001270	HP:0001270	Motor delay	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0001270	HP:0001270	Motor delay	0	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0001270	HP:0001270	Motor delay	0	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0001270	HP:0001270	Motor delay	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2		250
HP:0001270	HP:0001270	Motor delay	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0001270	HP:0001270	Motor delay	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0001270	HP:0001270	Motor delay	0	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive		18
HP:0001270	HP:0001270	Motor delay	0	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3		3
HP:0001270	HP:0001270	Motor delay	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0001270	HP:0001270	Motor delay	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1		38
HP:0001270	HP:0001270	Motor delay	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1		4
HP:0001270	HP:0001270	Motor delay	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0001270	HP:0001270	Motor delay	0	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	.	102
HP:0001270	HP:0001270	Motor delay	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.	3
HP:0001270	HP:0001270	Motor delay	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040281 - Very frequent	3
HP:0001270	HP:0001270	Motor delay	0	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD		7
HP:0001270	HP:0001270	Motor delay	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001270	HP:0001270	Motor delay	0	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44		122
HP:0001270	HP:0001270	Motor delay	0	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	HP:0040282 - Frequent	12
HP:0001270	HP:0001270	Motor delay	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0001270	HP:0001270	Motor delay	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent	63
HP:0001270	HP:0001270	Motor delay	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0001270	HP:0001270	Motor delay	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent	1361
HP:0001270	HP:0001270	Motor delay	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.	655
HP:0001270	HP:0001270	Motor delay	0	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0001270	HP:0001270	Motor delay	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities		7
HP:0001270	HP:0001270	Motor delay	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0001270	HP:0001270	Motor delay	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	.
HP:0001270	HP:0001270	Motor delay	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0001270	HP:0001270	Motor delay	0	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H		158
HP:0001270	HP:0001270	Motor delay	0	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia		18
HP:0001270	HP:0001270	Motor delay	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.	145
HP:0001270	HP:0001270	Motor delay	0	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria		111
HP:0001270	HP:0001270	Motor delay	0	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J	HP:0040283 - Occasional	111
HP:0001270	HP:0001270	Motor delay	0	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0001270	HP:0001270	Motor delay	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	.	13
HP:0001270	HP:0001270	Motor delay	0	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	HP:0040281 - Very frequent	13
HP:0001270	HP:0001270	Motor delay	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	157
HP:0001270	HP:0001270	Motor delay	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	157
HP:0001270	HP:0001270	Motor delay	0	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9	HP:0040283 - Occasional	157
HP:0001270	HP:0001270	Motor delay	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.	157
HP:0001270	HP:0001270	Motor delay	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5		157
HP:0001270	HP:0001270	Motor delay	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	184
HP:0001270	HP:0001270	Motor delay	0	FKTN CL E G H	2218	3622	OMIM:613152	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4	.	184
HP:0001270	HP:0001270	Motor delay	0	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4	.	184
HP:0001270	HP:0001270	Motor delay	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0001270	HP:0001270	Motor delay	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0001270	HP:0001270	Motor delay	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0001270	HP:0001270	Motor delay	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome		111
HP:0001270	HP:0001270	Motor delay	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040283 - Occasional	30
HP:0001270	HP:0001270	Motor delay	0	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001270	HP:0001270	Motor delay	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant	.	177
HP:0001270	HP:0001270	Motor delay	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040282 - Frequent	184
HP:0001270	HP:0001270	Motor delay	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0001270	HP:0001270	Motor delay	0	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0001270	HP:0001270	Motor delay	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104		32
HP:0001270	HP:0001270	Motor delay	0	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9		13
HP:0001270	HP:0001270	Motor delay	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		105
HP:0001270	HP:0001270	Motor delay	0	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0001270	HP:0001270	Motor delay	0	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0001270	HP:0001270	Motor delay	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	109
HP:0001270	HP:0001270	Motor delay	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040282 - Frequent	407
HP:0001270	HP:0001270	Motor delay	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome		5
HP:0001270	HP:0001270	Motor delay	0	GABRA5 CL E G H	2558	4079	OMIM:618559	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0001270	HP:0001270	Motor delay	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040282 - Frequent	160
HP:0001270	HP:0001270	Motor delay	0	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency		52
HP:0001270	HP:0001270	Motor delay	0	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040283 - Occasional	23
HP:0001270	HP:0001270	Motor delay	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0001270	HP:0001270	Motor delay	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0001270	HP:0001270	Motor delay	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive		121
HP:0001270	HP:0001270	Motor delay	0	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0001270	HP:0001270	Motor delay	0	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III	.
HP:0001270	HP:0001270	Motor delay	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0001270	HP:0001270	Motor delay	0	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0001270	HP:0001270	Motor delay	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	237
HP:0001270	HP:0001270	Motor delay	0	GDAP1 CL E G H	54332	15968	ORPHA:99944	Autosomal dominant Charcot-Marie-Tooth disease type 2K	HP:0040283 - Occasional	108
HP:0001270	HP:0001270	Motor delay	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0001270	HP:0001270	Motor delay	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0001270	HP:0001270	Motor delay	0	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A	.	108
HP:0001270	HP:0001270	Motor delay	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0001270	HP:0001270	Motor delay	0	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0001270	HP:0001270	Motor delay	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1	.	85
HP:0001270	HP:0001270	Motor delay	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	128
HP:0001270	HP:0001270	Motor delay	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	128
HP:0001270	HP:0001270	Motor delay	0	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1	HP:0040283 - Occasional	128
HP:0001270	HP:0001270	Motor delay	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0001270	HP:0001270	Motor delay	0	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040282 - Frequent	98
HP:0001270	HP:0001270	Motor delay	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0001270	HP:0001270	Motor delay	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040282 - Frequent	107
HP:0001270	HP:0001270	Motor delay	0	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44		37
HP:0001270	HP:0001270	Motor delay	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.	37
HP:0001270	HP:0001270	Motor delay	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.	45
HP:0001270	HP:0001270	Motor delay	0	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2		46
HP:0001270	HP:0001270	Motor delay	0	GLS CL E G H	2744	4331	OMIM:618412	Global developmental delay, progressive ataxia, and elevated glutamine
HP:0001270	HP:0001270	Motor delay	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0001270	HP:0001270	Motor delay	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	34
HP:0001270	HP:0001270	Motor delay	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	34
HP:0001270	HP:0001270	Motor delay	0	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14		34
HP:0001270	HP:0001270	Motor delay	0	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	HP:0040283 - Occasional	34
HP:0001270	HP:0001270	Motor delay	0	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0001270	HP:0001270	Motor delay	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:0001270	HP:0001270	Motor delay	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0001270	HP:0001270	Motor delay	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040281 - Very frequent	240
HP:0001270	HP:0001270	Motor delay	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0001270	HP:0001270	Motor delay	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001270	HP:0001270	Motor delay	0	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS		74
HP:0001270	HP:0001270	Motor delay	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040282 - Frequent
HP:0001270	HP:0001270	Motor delay	0	GRIA1 CL E G H	2890	4571	OMIM:619931			3
HP:0001270	HP:0001270	Motor delay	0	GRIA1 CL E G H	2890	4571	OMIM:619927			3
HP:0001270	HP:0001270	Motor delay	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0001270	HP:0001270	Motor delay	0	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0001270	HP:0001270	Motor delay	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:0001270	HP:0001270	Motor delay	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria		108
HP:0001270	HP:0001270	Motor delay	0	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive		108
HP:0001270	HP:0001270	Motor delay	0	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27		274
HP:0001270	HP:0001270	Motor delay	0	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44		8
HP:0001270	HP:0001270	Motor delay	0	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive	.	2
HP:0001270	HP:0001270	Motor delay	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0001270	HP:0001270	Motor delay	0	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional	4
HP:0001270	HP:0001270	Motor delay	0	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040283 - Occasional	4
HP:0001270	HP:0001270	Motor delay	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0001270	HP:0001270	Motor delay	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0001270	HP:0001270	Motor delay	0	HACD1 CL E G H	9200	9639	OMIM:619967			2
HP:0001270	HP:0001270	Motor delay	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	2
HP:0001270	HP:0001270	Motor delay	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	41
HP:0001270	HP:0001270	Motor delay	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional	99
HP:0001270	HP:0001270	Motor delay	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional	60
HP:0001270	HP:0001270	Motor delay	0	HARS1 CL E G H	3035	4816	OMIM:614504	Usher syndrome, type IIIB
HP:0001270	HP:0001270	Motor delay	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0001270	HP:0001270	Motor delay	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language		11
HP:0001270	HP:0001270	Motor delay	0	HELLS CL E G H	3070	4861	OMIM:616911	Immunodeficiency-centromeric instability-facial anomalies syndrome 4		6
HP:0001270	HP:0001270	Motor delay	0	HEPACAM CL E G H	220296	26361	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	.	82
HP:0001270	HP:0001270	Motor delay	0	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A	.	82
HP:0001270	HP:0001270	Motor delay	0	HEPACAM CL E G H	220296	26361	OMIM:613926	Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation	.	82
HP:0001270	HP:0001270	Motor delay	0	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38		38
HP:0001270	HP:0001270	Motor delay	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0001270	HP:0001270	Motor delay	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.	86
HP:0001270	HP:0001270	Motor delay	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040281 - Very frequent	32
HP:0001270	HP:0001270	Motor delay	0	HID1 CL E G H	283987	15736	OMIM:619983
HP:0001270	HP:0001270	Motor delay	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0001270	HP:0001270	Motor delay	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0001270	HP:0001270	Motor delay	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent	2
HP:0001270	HP:0001270	Motor delay	0	HNMT CL E G H	3176	5028	OMIM:616739	Mental retardation, autosomal recessive 51	HP:0040283 - Occasional	3
HP:0001270	HP:0001270	Motor delay	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0001270	HP:0001270	Motor delay	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0001270	HP:0001270	Motor delay	0	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS		34
HP:0001270	HP:0001270	Motor delay	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0001270	HP:0001270	Motor delay	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome	.	76
HP:0001270	HP:0001270	Motor delay	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0001270	HP:0001270	Motor delay	0	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0001270	HP:0001270	Motor delay	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1	HP:0040283 - Occasional	98
HP:0001270	HP:0001270	Motor delay	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0001270	HP:0001270	Motor delay	0	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5	.
HP:0001270	HP:0001270	Motor delay	0	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent	25
HP:0001270	HP:0001270	Motor delay	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.	25
HP:0001270	HP:0001270	Motor delay	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0001270	HP:0001270	Motor delay	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0001270	HP:0001270	Motor delay	0	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly	.	4
HP:0001270	HP:0001270	Motor delay	0	IFT74 CL E G H	80173	21424	OMIM:619582	JOUBERT SYNDROME 40; JBTS40		3
HP:0001270	HP:0001270	Motor delay	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040283 - Occasional	91
HP:0001270	HP:0001270	Motor delay	0	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency	.	91
HP:0001270	HP:0001270	Motor delay	0	IGF1R CL E G H	3480	5465	ORPHA:73273	Growth delay due to insulin-like growth factor I resistance	HP:0040282 - Frequent	268
HP:0001270	HP:0001270	Motor delay	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.	268
HP:0001270	HP:0001270	Motor delay	0	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies	.	9
HP:0001270	HP:0001270	Motor delay	0	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional	9
HP:0001270	HP:0001270	Motor delay	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent	9
HP:0001270	HP:0001270	Motor delay	0	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040283 - Occasional	9
HP:0001270	HP:0001270	Motor delay	0	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0001270	HP:0001270	Motor delay	0	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0001270	HP:0001270	Motor delay	0	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0001270	HP:0001270	Motor delay	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0001270	HP:0001270	Motor delay	0	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	.	7
HP:0001270	HP:0001270	Motor delay	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0001270	HP:0001270	Motor delay	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	62
HP:0001270	HP:0001270	Motor delay	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001270	HP:0001270	Motor delay	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001270	HP:0001270	Motor delay	0	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0001270	HP:0001270	Motor delay	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0001270	HP:0001270	Motor delay	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	127
HP:0001270	HP:0001270	Motor delay	0	ITGA7 CL E G H	3679	6143	OMIM:613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	.	127
HP:0001270	HP:0001270	Motor delay	0	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome	.	177
HP:0001270	HP:0001270	Motor delay	0	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29	.	177
HP:0001270	HP:0001270	Motor delay	0	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29	HP:0040282 - Frequent	177
HP:0001270	HP:0001270	Motor delay	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0001270	HP:0001270	Motor delay	0	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0001270	HP:0001270	Motor delay	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0001270	HP:0001270	Motor delay	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0001270	HP:0001270	Motor delay	0	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant	.	141
HP:0001270	HP:0001270	Motor delay	0	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0001270	HP:0001270	Motor delay	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0001270	HP:0001270	Motor delay	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	80
HP:0001270	HP:0001270	Motor delay	0	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040283 - Occasional	145
HP:0001270	HP:0001270	Motor delay	0	KCNA4 CL E G H	3739	6222	OMIM:618284	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum	.
HP:0001270	HP:0001270	Motor delay	0	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13	.	17
HP:0001270	HP:0001270	Motor delay	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040282 - Frequent	17
HP:0001270	HP:0001270	Motor delay	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	127
HP:0001270	HP:0001270	Motor delay	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	.
HP:0001270	HP:0001270	Motor delay	0	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0001270	HP:0001270	Motor delay	0	KCNQ2 CL E G H	3785	6296	OMIM:121200	Seizures, benign familial neonatal, 1	HP:0040283 - Occasional	528
HP:0001270	HP:0001270	Motor delay	0	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0001270	HP:0001270	Motor delay	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features	.	3
HP:0001270	HP:0001270	Motor delay	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome		3
HP:0001270	HP:0001270	Motor delay	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0001270	HP:0001270	Motor delay	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0001270	HP:0001270	Motor delay	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0001270	HP:0001270	Motor delay	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0001270	HP:0001270	Motor delay	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0001270	HP:0001270	Motor delay	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0001270	HP:0001270	Motor delay	0	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome		4
HP:0001270	HP:0001270	Motor delay	0	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive		9
HP:0001270	HP:0001270	Motor delay	0	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome	.	167
HP:0001270	HP:0001270	Motor delay	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy	.	1
HP:0001270	HP:0001270	Motor delay	0	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome		1
HP:0001270	HP:0001270	Motor delay	0	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103		3
HP:0001270	HP:0001270	Motor delay	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	28
HP:0001270	HP:0001270	Motor delay	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	13
HP:0001270	HP:0001270	Motor delay	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	13
HP:0001270	HP:0001270	Motor delay	0	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9	.	13
HP:0001270	HP:0001270	Motor delay	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	13
HP:0001270	HP:0001270	Motor delay	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome		91
HP:0001270	HP:0001270	Motor delay	0	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset	HP:0040283 - Occasional	11
HP:0001270	HP:0001270	Motor delay	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	99
HP:0001270	HP:0001270	Motor delay	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome		1
HP:0001270	HP:0001270	Motor delay	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome		13
HP:0001270	HP:0001270	Motor delay	0	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41		13
HP:0001270	HP:0001270	Motor delay	0	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome		3
HP:0001270	HP:0001270	Motor delay	0	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome	.	35
HP:0001270	HP:0001270	Motor delay	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040281 - Very frequent	411
HP:0001270	HP:0001270	Motor delay	0	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient		411
HP:0001270	HP:0001270	Motor delay	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0001270	HP:0001270	Motor delay	0	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5		71
HP:0001270	HP:0001270	Motor delay	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0001270	HP:0001270	Motor delay	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	136
HP:0001270	HP:0001270	Motor delay	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.	136
HP:0001270	HP:0001270	Motor delay	0	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0001270	HP:0001270	Motor delay	0	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4		54
HP:0001270	HP:0001270	Motor delay	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0001270	HP:0001270	Motor delay	0	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures	.	31
HP:0001270	HP:0001270	Motor delay	0	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0001270	HP:0001270	Motor delay	0	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64
HP:0001270	HP:0001270	Motor delay	0	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27		25
HP:0001270	HP:0001270	Motor delay	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0001270	HP:0001270	Motor delay	0	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related	.	645
HP:0001270	HP:0001270	Motor delay	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0001270	HP:0001270	Motor delay	0	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27		11
HP:0001270	HP:0001270	Motor delay	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	11
HP:0001270	HP:0001270	Motor delay	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040281 - Very frequent	165
HP:0001270	HP:0001270	Motor delay	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0001270	HP:0001270	Motor delay	0	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome		124
HP:0001270	HP:0001270	Motor delay	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		124
HP:0001270	HP:0001270	Motor delay	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	125
HP:0001270	HP:0001270	Motor delay	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome		125
HP:0001270	HP:0001270	Motor delay	0	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0001270	HP:0001270	Motor delay	0	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4		2
HP:0001270	HP:0001270	Motor delay	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent
HP:0001270	HP:0001270	Motor delay	0	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent	92
HP:0001270	HP:0001270	Motor delay	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0001270	HP:0001270	Motor delay	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0001270	HP:0001270	Motor delay	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0001270	HP:0001270	Motor delay	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0001270	HP:0001270	Motor delay	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040281 - Very frequent	63
HP:0001270	HP:0001270	Motor delay	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0001270	HP:0001270	Motor delay	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome		63
HP:0001270	HP:0001270	Motor delay	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0001270	HP:0001270	Motor delay	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040282 - Frequent	136
HP:0001270	HP:0001270	Motor delay	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0001270	HP:0001270	Motor delay	0	MAOA CL E G H	4128	6833	OMIM:300615	Brunner syndrome		22
HP:0001270	HP:0001270	Motor delay	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	2
HP:0001270	HP:0001270	Motor delay	0	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion	.	2
HP:0001270	HP:0001270	Motor delay	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0001270	HP:0001270	Motor delay	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	.	4
HP:0001270	HP:0001270	Motor delay	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0001270	HP:0001270	Motor delay	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.	252
HP:0001270	HP:0001270	Motor delay	0	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57		5
HP:0001270	HP:0001270	Motor delay	0	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency		19
HP:0001270	HP:0001270	Motor delay	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	.	3
HP:0001270	HP:0001270	Motor delay	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51		4
HP:0001270	HP:0001270	Motor delay	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome		950
HP:0001270	HP:0001270	Motor delay	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0001270	HP:0001270	Motor delay	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0001270	HP:0001270	Motor delay	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	HP:0040283 - Occasional	6
HP:0001270	HP:0001270	Motor delay	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0001270	HP:0001270	Motor delay	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0001270	HP:0001270	Motor delay	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0001270	HP:0001270	Motor delay	0	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61		4
HP:0001270	HP:0001270	Motor delay	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040281 - Very frequent	74
HP:0001270	HP:0001270	Motor delay	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects		74
HP:0001270	HP:0001270	Motor delay	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0001270	HP:0001270	Motor delay	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20	.	132
HP:0001270	HP:0001270	Motor delay	0	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation		1
HP:0001270	HP:0001270	Motor delay	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040281 - Very frequent	1
HP:0001270	HP:0001270	Motor delay	0	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040281 - Very frequent	1
HP:0001270	HP:0001270	Motor delay	0	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040281 - Very frequent	1
HP:0001270	HP:0001270	Motor delay	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.	158
HP:0001270	HP:0001270	Motor delay	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0001270	HP:0001270	Motor delay	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0001270	HP:0001270	Motor delay	0	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2		17
HP:0001270	HP:0001270	Motor delay	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent	17
HP:0001270	HP:0001270	Motor delay	0	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B		203
HP:0001270	HP:0001270	Motor delay	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001270	HP:0001270	Motor delay	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs	.	14
HP:0001270	HP:0001270	Motor delay	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0001270	HP:0001270	Motor delay	0	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16		3
HP:0001270	HP:0001270	Motor delay	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0001270	HP:0001270	Motor delay	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001270	HP:0001270	Motor delay	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0001270	HP:0001270	Motor delay	0	MLC1 CL E G H	23209	17082	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	.	112
HP:0001270	HP:0001270	Motor delay	0	MLIP CL E G H	90523	21355	OMIM:620138
HP:0001270	HP:0001270	Motor delay	0	MMP13 CL E G H	4322	7159	OMIM:250400	Metaphyseal chondrodysplasia, Spahr type	.	52
HP:0001270	HP:0001270	Motor delay	0	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID		1
HP:0001270	HP:0001270	Motor delay	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z	HP:0040283 - Occasional	8
HP:0001270	HP:0001270	Motor delay	0	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN		8
HP:0001270	HP:0001270	Motor delay	0	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	.	29
HP:0001270	HP:0001270	Motor delay	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0001270	HP:0001270	Motor delay	0	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B	HP:0040283 - Occasional	134
HP:0001270	HP:0001270	Motor delay	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	134
HP:0001270	HP:0001270	Motor delay	0	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2	.	134
HP:0001270	HP:0001270	Motor delay	0	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	134
HP:0001270	HP:0001270	Motor delay	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0001270	HP:0001270	Motor delay	0	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0001270	HP:0001270	Motor delay	0	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0001270	HP:0001270	Motor delay	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0001270	HP:0001270	Motor delay	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0001270	HP:0001270	Motor delay	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0001270	HP:0001270	Motor delay	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0001270	HP:0001270	Motor delay	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy		7
HP:0001270	HP:0001270	Motor delay	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant	.	7
HP:0001270	HP:0001270	Motor delay	0	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1	.	88
HP:0001270	HP:0001270	Motor delay	0	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	HP:0040282 - Frequent	19
HP:0001270	HP:0001270	Motor delay	0	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive		19
HP:0001270	HP:0001270	Motor delay	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		72
HP:0001270	HP:0001270	Motor delay	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy		19
HP:0001270	HP:0001270	Motor delay	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0001270	HP:0001270	Motor delay	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy		1269
HP:0001270	HP:0001270	Motor delay	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy	.
HP:0001270	HP:0001270	Motor delay	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	131
HP:0001270	HP:0001270	Motor delay	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.	5
HP:0001270	HP:0001270	Motor delay	0	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0001270	HP:0001270	Motor delay	0	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I	.	516
HP:0001270	HP:0001270	Motor delay	0	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	.
HP:0001270	HP:0001270	Motor delay	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional
HP:0001270	HP:0001270	Motor delay	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001270	HP:0001270	Motor delay	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040282 - Frequent	217
HP:0001270	HP:0001270	Motor delay	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	217
HP:0001270	HP:0001270	Motor delay	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	HP:0040284 - Very rare	2
HP:0001270	HP:0001270	Motor delay	0	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39		13
HP:0001270	HP:0001270	Motor delay	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1		23
HP:0001270	HP:0001270	Motor delay	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome		23
HP:0001270	HP:0001270	Motor delay	0	NAA15 CL E G H	80155	30782	OMIM:617787	MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50		1
HP:0001270	HP:0001270	Motor delay	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0001270	HP:0001270	Motor delay	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay		48
HP:0001270	HP:0001270	Motor delay	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040281 - Very frequent	48
HP:0001270	HP:0001270	Motor delay	0	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0001270	HP:0001270	Motor delay	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0001270	HP:0001270	Motor delay	0	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE		3
HP:0001270	HP:0001270	Motor delay	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome		2
HP:0001270	HP:0001270	Motor delay	0	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0001270	HP:0001270	Motor delay	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001270	HP:0001270	Motor delay	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001270	HP:0001270	Motor delay	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001270	HP:0001270	Motor delay	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001270	HP:0001270	Motor delay	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0001270	HP:0001270	Motor delay	0	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D	HP:0040282 - Frequent	82
HP:0001270	HP:0001270	Motor delay	0	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46		27
HP:0001270	HP:0001270	Motor delay	0	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12		7
HP:0001270	HP:0001270	Motor delay	0	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23	.	7
HP:0001270	HP:0001270	Motor delay	0	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0001270	HP:0001270	Motor delay	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0001270	HP:0001270	Motor delay	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	745
HP:0001270	HP:0001270	Motor delay	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	745
HP:0001270	HP:0001270	Motor delay	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.	745
HP:0001270	HP:0001270	Motor delay	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	745
HP:0001270	HP:0001270	Motor delay	0	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E	HP:0040283 - Occasional	118
HP:0001270	HP:0001270	Motor delay	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent	118
HP:0001270	HP:0001270	Motor delay	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E	HP:0040283 - Occasional	118
HP:0001270	HP:0001270	Motor delay	0	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F	.	118
HP:0001270	HP:0001270	Motor delay	0	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G	.	118
HP:0001270	HP:0001270	Motor delay	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	HP:0040284 - Very rare	101
HP:0001270	HP:0001270	Motor delay	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0001270	HP:0001270	Motor delay	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional	43
HP:0001270	HP:0001270	Motor delay	0	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0001270	HP:0001270	Motor delay	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0001270	HP:0001270	Motor delay	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0001270	HP:0001270	Motor delay	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040282 - Frequent	40
HP:0001270	HP:0001270	Motor delay	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0001270	HP:0001270	Motor delay	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.	40
HP:0001270	HP:0001270	Motor delay	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0001270	HP:0001270	Motor delay	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0001270	HP:0001270	Motor delay	0	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent	117
HP:0001270	HP:0001270	Motor delay	0	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent	1
HP:0001270	HP:0001270	Motor delay	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional	51
HP:0001270	HP:0001270	Motor delay	0	NKX2-1 CL E G H	7080	11825	OMIM:118700	Chorea, benign hereditary	.	51
HP:0001270	HP:0001270	Motor delay	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	.	51
HP:0001270	HP:0001270	Motor delay	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia		10
HP:0001270	HP:0001270	Motor delay	0	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	.	2
HP:0001270	HP:0001270	Motor delay	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0001270	HP:0001270	Motor delay	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome		10
HP:0001270	HP:0001270	Motor delay	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0001270	HP:0001270	Motor delay	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0001270	HP:0001270	Motor delay	0	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0001270	HP:0001270	Motor delay	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0001270	HP:0001270	Motor delay	0	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4		85
HP:0001270	HP:0001270	Motor delay	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0001270	HP:0001270	Motor delay	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0001270	HP:0001270	Motor delay	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0001270	HP:0001270	Motor delay	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0001270	HP:0001270	Motor delay	0	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45	HP:0040282 - Frequent	15
HP:0001270	HP:0001270	Motor delay	0	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive	.	15
HP:0001270	HP:0001270	Motor delay	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome		1
HP:0001270	HP:0001270	Motor delay	0	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0001270	HP:0001270	Motor delay	0	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21		89
HP:0001270	HP:0001270	Motor delay	0	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0001270	HP:0001270	Motor delay	0	NUS1 CL E G H	116150	21042	OMIM:617831	MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55		1
HP:0001270	HP:0001270	Motor delay	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0001270	HP:0001270	Motor delay	0	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency
HP:0001270	HP:0001270	Motor delay	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome	.	214
HP:0001270	HP:0001270	Motor delay	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0001270	HP:0001270	Motor delay	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	HP:0040283 - Occasional	39
HP:0001270	HP:0001270	Motor delay	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies		4
HP:0001270	HP:0001270	Motor delay	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0001270	HP:0001270	Motor delay	0	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0001270	HP:0001270	Motor delay	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation		231
HP:0001270	HP:0001270	Motor delay	0	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0001270	HP:0001270	Motor delay	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0001270	HP:0001270	Motor delay	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0001270	HP:0001270	Motor delay	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:0001270	HP:0001270	Motor delay	0	PCBD1 CL E G H	5092	8646	OMIM:264070	Hyperphenylalaninemia, BH4-deficient, D		24
HP:0001270	HP:0001270	Motor delay	0	PCDH15 CL E G H	65217	14674	OMIM:602083	Usher syndrome, type IF	.	352
HP:0001270	HP:0001270	Motor delay	0	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability	HP:0040282 - Frequent	225
HP:0001270	HP:0001270	Motor delay	0	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0001270	HP:0001270	Motor delay	0	PDE10A CL E G H	10846	8772	OMIM:616921	Dyskinesia, limb and orofacial, infantile-onset	.	5
HP:0001270	HP:0001270	Motor delay	0	PDE10A CL E G H	10846	8772	ORPHA:494526	Infantile-onset generalized dyskinesia with orofacial involvement	HP:0040282 - Frequent	5
HP:0001270	HP:0001270	Motor delay	0	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6	HP:0040283 - Occasional	4
HP:0001270	HP:0001270	Motor delay	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	30
HP:0001270	HP:0001270	Motor delay	0	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0001270	HP:0001270	Motor delay	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0001270	HP:0001270	Motor delay	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0001270	HP:0001270	Motor delay	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia		217
HP:0001270	HP:0001270	Motor delay	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency		54
HP:0001270	HP:0001270	Motor delay	0	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa	.	54
HP:0001270	HP:0001270	Motor delay	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0001270	HP:0001270	Motor delay	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency		48
HP:0001270	HP:0001270	Motor delay	0	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc		48
HP:0001270	HP:0001270	Motor delay	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0001270	HP:0001270	Motor delay	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch		77
HP:0001270	HP:0001270	Motor delay	0	PIGC CL E G H	5279	8960	OMIM:617816	Glycosylphosphatidylinositol biosynthesis defect 16		1
HP:0001270	HP:0001270	Motor delay	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome		7
HP:0001270	HP:0001270	Motor delay	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0001270	HP:0001270	Motor delay	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent	3
HP:0001270	HP:0001270	Motor delay	0	PLEC CL E G H	5339	9069	OMIM:613723	Muscular dystrophy, limb-girdle, type 2Q	.	759
HP:0001270	HP:0001270	Motor delay	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040282 - Frequent	759
HP:0001270	HP:0001270	Motor delay	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0001270	HP:0001270	Motor delay	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0001270	HP:0001270	Motor delay	0	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form		60
HP:0001270	HP:0001270	Motor delay	0	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent		6
HP:0001270	HP:0001270	Motor delay	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040282 - Frequent
HP:0001270	HP:0001270	Motor delay	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	79
HP:0001270	HP:0001270	Motor delay	0	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	79
HP:0001270	HP:0001270	Motor delay	0	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3		7
HP:0001270	HP:0001270	Motor delay	0	PNKP CL E G H	11284	9154	OMIM:613402	Microcephaly, seizures, and developmental delay		244
HP:0001270	HP:0001270	Motor delay	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	.	52
HP:0001270	HP:0001270	Motor delay	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy		65
HP:0001270	HP:0001270	Motor delay	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040282 - Frequent	65
HP:0001270	HP:0001270	Motor delay	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0001270	HP:0001270	Motor delay	0	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11		38
HP:0001270	HP:0001270	Motor delay	0	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0001270	HP:0001270	Motor delay	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0001270	HP:0001270	Motor delay	0	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0001270	HP:0001270	Motor delay	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0001270	HP:0001270	Motor delay	0	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0001270	HP:0001270	Motor delay	0	POMGNT1 CL E G H	55624	19139	OMIM:613151	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3	.	180
HP:0001270	HP:0001270	Motor delay	0	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3	HP:0040283 - Occasional	180
HP:0001270	HP:0001270	Motor delay	0	POMGNT2 CL E G H	84892	25902	OMIM:618135	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8	HP:0040284 - Very rare	33
HP:0001270	HP:0001270	Motor delay	0	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12	.	18
HP:0001270	HP:0001270	Motor delay	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	213
HP:0001270	HP:0001270	Motor delay	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	213
HP:0001270	HP:0001270	Motor delay	0	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1	.	213
HP:0001270	HP:0001270	Motor delay	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	221
HP:0001270	HP:0001270	Motor delay	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.	221
HP:0001270	HP:0001270	Motor delay	0	POMT2 CL E G H	29954	19743	OMIM:613158	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2	.	221
HP:0001270	HP:0001270	Motor delay	0	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14		221
HP:0001270	HP:0001270	Motor delay	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0001270	HP:0001270	Motor delay	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0001270	HP:0001270	Motor delay	0	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0001270	HP:0001270	Motor delay	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities		2
HP:0001270	HP:0001270	Motor delay	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36		13
HP:0001270	HP:0001270	Motor delay	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0001270	HP:0001270	Motor delay	0	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35		10
HP:0001270	HP:0001270	Motor delay	0	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0001270	HP:0001270	Motor delay	0	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH		2
HP:0001270	HP:0001270	Motor delay	0	PREPL CL E G H	9581	30228	OMIM:616224	Myasthenic syndrome, congenital, 22	.	7
HP:0001270	HP:0001270	Motor delay	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001270	HP:0001270	Motor delay	0	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16	HP:0040283 - Occasional	37
HP:0001270	HP:0001270	Motor delay	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.	37
HP:0001270	HP:0001270	Motor delay	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures		6
HP:0001270	HP:0001270	Motor delay	0	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5	.	49
HP:0001270	HP:0001270	Motor delay	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040282 - Frequent	49
HP:0001270	HP:0001270	Motor delay	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity	.	49
HP:0001270	HP:0001270	Motor delay	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0001270	HP:0001270	Motor delay	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F	.	170
HP:0001270	HP:0001270	Motor delay	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	170
HP:0001270	HP:0001270	Motor delay	0	PSMB1 CL E G H	5689	9537	OMIM:620038			2
HP:0001270	HP:0001270	Motor delay	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0001270	HP:0001270	Motor delay	0	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0001270	HP:0001270	Motor delay	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0001270	HP:0001270	Motor delay	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0001270	HP:0001270	Motor delay	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome		948
HP:0001270	HP:0001270	Motor delay	0	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040281 - Very frequent	948
HP:0001270	HP:0001270	Motor delay	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	948
HP:0001270	HP:0001270	Motor delay	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0001270	HP:0001270	Motor delay	0	PTPRQ CL E G H	374462	9679	OMIM:613391	Deafness, autosomal recessive 84	.	7
HP:0001270	HP:0001270	Motor delay	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040281 - Very frequent	6
HP:0001270	HP:0001270	Motor delay	0	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency	HP:0040283 - Occasional	19
HP:0001270	HP:0001270	Motor delay	0	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47	.	1
HP:0001270	HP:0001270	Motor delay	0	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:0001270	HP:0001270	Motor delay	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0001270	HP:0001270	Motor delay	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001270	HP:0001270	Motor delay	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001270	HP:0001270	Motor delay	0	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040283 - Occasional	71
HP:0001270	HP:0001270	Motor delay	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0001270	HP:0001270	Motor delay	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0001270	HP:0001270	Motor delay	0	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2		90
HP:0001270	HP:0001270	Motor delay	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0001270	HP:0001270	Motor delay	0	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:0001270	HP:0001270	Motor delay	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome		150
HP:0001270	HP:0001270	Motor delay	0	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0001270	HP:0001270	Motor delay	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0001270	HP:0001270	Motor delay	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		73
HP:0001270	HP:0001270	Motor delay	0	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0001270	HP:0001270	Motor delay	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	.	10
HP:0001270	HP:0001270	Motor delay	0	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3		3
HP:0001270	HP:0001270	Motor delay	0	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7
HP:0001270	HP:0001270	Motor delay	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040282 - Frequent	3
HP:0001270	HP:0001270	Motor delay	0	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0001270	HP:0001270	Motor delay	0	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23		1
HP:0001270	HP:0001270	Motor delay	0	RNU12 CL E G H	267010	19380	ORPHA:512260	Congenital cerebellar ataxia due to RNU12 mutation
HP:0001270	HP:0001270	Motor delay	0	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1		90
HP:0001270	HP:0001270	Motor delay	0	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA		1
HP:0001270	HP:0001270	Motor delay	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0001270	HP:0001270	Motor delay	0	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0001270	HP:0001270	Motor delay	0	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19		65
HP:0001270	HP:0001270	Motor delay	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0001270	HP:0001270	Motor delay	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040281 - Very frequent	2
HP:0001270	HP:0001270	Motor delay	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.	2
HP:0001270	HP:0001270	Motor delay	0	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70	.	2
HP:0001270	HP:0001270	Motor delay	0	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0001270	HP:0001270	Motor delay	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040281 - Very frequent
HP:0001270	HP:0001270	Motor delay	0	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040281 - Very frequent
HP:0001270	HP:0001270	Motor delay	0	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040281 - Very frequent
HP:0001270	HP:0001270	Motor delay	0	RUBCN CL E G H	9711	28991	ORPHA:404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency		9
HP:0001270	HP:0001270	Motor delay	0	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15		9
HP:0001270	HP:0001270	Motor delay	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0001270	HP:0001270	Motor delay	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy		1200
HP:0001270	HP:0001270	Motor delay	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent	1200
HP:0001270	HP:0001270	Motor delay	0	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy	HP:0040282 - Frequent	1200
HP:0001270	HP:0001270	Motor delay	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0001270	HP:0001270	Motor delay	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040282 - Frequent	1200
HP:0001270	HP:0001270	Motor delay	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040282 - Frequent	1200
HP:0001270	HP:0001270	Motor delay	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040282 - Frequent	1200
HP:0001270	HP:0001270	Motor delay	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0001270	HP:0001270	Motor delay	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.	1200
HP:0001270	HP:0001270	Motor delay	0	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement		1200
HP:0001270	HP:0001270	Motor delay	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8
HP:0001270	HP:0001270	Motor delay	0	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional	4
HP:0001270	HP:0001270	Motor delay	0	SATB1 CL E G H	6304	10541	OMIM:619228	DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA
HP:0001270	HP:0001270	Motor delay	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001270	HP:0001270	Motor delay	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0001270	HP:0001270	Motor delay	0	SCN11A CL E G H	11280	10583	OMIM:615548	Neuropathy, hereditary sensory and autonomic, type VII	.	19
HP:0001270	HP:0001270	Motor delay	0	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)	.	1053
HP:0001270	HP:0001270	Motor delay	0	SCN2A CL E G H	6326	10588	OMIM:618924	EPISODIC ATAXIA, TYPE 9; EA9		427
HP:0001270	HP:0001270	Motor delay	0	SCN4A CL E G H	6329	10591	OMIM:614198	Myasthenic syndrome, congenital, 16	.	263
HP:0001270	HP:0001270	Motor delay	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		263
HP:0001270	HP:0001270	Motor delay	0	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13		357
HP:0001270	HP:0001270	Motor delay	0	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect	HP:0040282 - Frequent	40
HP:0001270	HP:0001270	Motor delay	0	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21	.	5
HP:0001270	HP:0001270	Motor delay	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	304
HP:0001270	HP:0001270	Motor delay	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	16
HP:0001270	HP:0001270	Motor delay	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	237
HP:0001270	HP:0001270	Motor delay	0	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0001270	HP:0001270	Motor delay	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	129
HP:0001270	HP:0001270	Motor delay	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0001270	HP:0001270	Motor delay	0	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0001270	HP:0001270	Motor delay	0	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy		144
HP:0001270	HP:0001270	Motor delay	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	144
HP:0001270	HP:0001270	Motor delay	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.	144
HP:0001270	HP:0001270	Motor delay	0	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0001270	HP:0001270	Motor delay	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	66
HP:0001270	HP:0001270	Motor delay	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0001270	HP:0001270	Motor delay	0	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome	HP:0040281 - Very frequent	143
HP:0001270	HP:0001270	Motor delay	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29	.	143
HP:0001270	HP:0001270	Motor delay	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0001270	HP:0001270	Motor delay	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency		43
HP:0001270	HP:0001270	Motor delay	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0001270	HP:0001270	Motor delay	0	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility	HP:0040284 - Very rare
HP:0001270	HP:0001270	Motor delay	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0001270	HP:0001270	Motor delay	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0001270	HP:0001270	Motor delay	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.	493
HP:0001270	HP:0001270	Motor delay	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome	.	53
HP:0001270	HP:0001270	Motor delay	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001270	HP:0001270	Motor delay	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0001270	HP:0001270	Motor delay	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0001270	HP:0001270	Motor delay	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		6
HP:0001270	HP:0001270	Motor delay	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0001270	HP:0001270	Motor delay	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040281 - Very frequent	40
HP:0001270	HP:0001270	Motor delay	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0001270	HP:0001270	Motor delay	0	SLC12A2 CL E G H	6558	10911	OMIM:619081	DEAFNESS, AUTOSOMAL DOMINANT 78; DFNA78		2
HP:0001270	HP:0001270	Motor delay	0	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES		2
HP:0001270	HP:0001270	Motor delay	0	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0001270	HP:0001270	Motor delay	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0001270	HP:0001270	Motor delay	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome		57
HP:0001270	HP:0001270	Motor delay	0	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2		2
HP:0001270	HP:0001270	Motor delay	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	2
HP:0001270	HP:0001270	Motor delay	0	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6	.	63
HP:0001270	HP:0001270	Motor delay	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040282 - Frequent	4
HP:0001270	HP:0001270	Motor delay	0	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic	.	28
HP:0001270	HP:0001270	Motor delay	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	28
HP:0001270	HP:0001270	Motor delay	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0001270	HP:0001270	Motor delay	0	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression		1
HP:0001270	HP:0001270	Motor delay	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1		14
HP:0001270	HP:0001270	Motor delay	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001270	HP:0001270	Motor delay	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040282 - Frequent	110
HP:0001270	HP:0001270	Motor delay	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0001270	HP:0001270	Motor delay	0	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN		11
HP:0001270	HP:0001270	Motor delay	0	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic		9
HP:0001270	HP:0001270	Motor delay	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	9
HP:0001270	HP:0001270	Motor delay	0	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1		13
HP:0001270	HP:0001270	Motor delay	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.	122
HP:0001270	HP:0001270	Motor delay	0	SLC9A1 CL E G H	6548	11071	OMIM:616291	Lichtenstein-Knorr syndrome	.	2
HP:0001270	HP:0001270	Motor delay	0	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0001270	HP:0001270	Motor delay	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0001270	HP:0001270	Motor delay	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent	146
HP:0001270	HP:0001270	Motor delay	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0001270	HP:0001270	Motor delay	0	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0001270	HP:0001270	Motor delay	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome		135
HP:0001270	HP:0001270	Motor delay	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0001270	HP:0001270	Motor delay	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B		164
HP:0001270	HP:0001270	Motor delay	0	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18		2
HP:0001270	HP:0001270	Motor delay	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	2
HP:0001270	HP:0001270	Motor delay	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001270	HP:0001270	Motor delay	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001270	HP:0001270	Motor delay	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0001270	HP:0001270	Motor delay	0	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13		37
HP:0001270	HP:0001270	Motor delay	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome		14
HP:0001270	HP:0001270	Motor delay	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20		14
HP:0001270	HP:0001270	Motor delay	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0001270	HP:0001270	Motor delay	0	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency	HP:0040280 - Obligate	11
HP:0001270	HP:0001270	Motor delay	0	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII	.	34
HP:0001270	HP:0001270	Motor delay	0	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII	.	2
HP:0001270	HP:0001270	Motor delay	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040282 - Frequent	66
HP:0001270	HP:0001270	Motor delay	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0001270	HP:0001270	Motor delay	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent	20
HP:0001270	HP:0001270	Motor delay	0	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5	.	20
HP:0001270	HP:0001270	Motor delay	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0001270	HP:0001270	Motor delay	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		287
HP:0001270	HP:0001270	Motor delay	0	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome	HP:0040283 - Occasional	28
HP:0001270	HP:0001270	Motor delay	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0001270	HP:0001270	Motor delay	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0001270	HP:0001270	Motor delay	0	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency	HP:0040282 - Frequent	28
HP:0001270	HP:0001270	Motor delay	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0001270	HP:0001270	Motor delay	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001270	HP:0001270	Motor delay	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness		3
HP:0001270	HP:0001270	Motor delay	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		54
HP:0001270	HP:0001270	Motor delay	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0001270	HP:0001270	Motor delay	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	.	80
HP:0001270	HP:0001270	Motor delay	0	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome	.	80
HP:0001270	HP:0001270	Motor delay	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.	14
HP:0001270	HP:0001270	Motor delay	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040282 - Frequent	14
HP:0001270	HP:0001270	Motor delay	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities		1
HP:0001270	HP:0001270	Motor delay	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	110
HP:0001270	HP:0001270	Motor delay	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0001270	HP:0001270	Motor delay	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040281 - Very frequent	237
HP:0001270	HP:0001270	Motor delay	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)		66
HP:0001270	HP:0001270	Motor delay	0	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria		66
HP:0001270	HP:0001270	Motor delay	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0001270	HP:0001270	Motor delay	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0001270	HP:0001270	Motor delay	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0001270	HP:0001270	Motor delay	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.	73
HP:0001270	HP:0001270	Motor delay	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0001270	HP:0001270	Motor delay	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type		1129
HP:0001270	HP:0001270	Motor delay	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040282 - Frequent	1129
HP:0001270	HP:0001270	Motor delay	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129
HP:0001270	HP:0001270	Motor delay	0	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5	.	108
HP:0001270	HP:0001270	Motor delay	0	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome		1
HP:0001270	HP:0001270	Motor delay	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040281 - Very frequent	1
HP:0001270	HP:0001270	Motor delay	0	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic		4
HP:0001270	HP:0001270	Motor delay	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	4
HP:0001270	HP:0001270	Motor delay	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0001270	HP:0001270	Motor delay	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:0001270	HP:0001270	Motor delay	0	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0001270	HP:0001270	Motor delay	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0001270	HP:0001270	Motor delay	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:0001270	HP:0001270	Motor delay	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome		12
HP:0001270	HP:0001270	Motor delay	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001270	HP:0001270	Motor delay	0	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional	271
HP:0001270	HP:0001270	Motor delay	0	TBR1 CL E G H	10716	11590	OMIM:606053	Intellectual developmental disorder with autism and speech delay		1
HP:0001270	HP:0001270	Motor delay	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.	1
HP:0001270	HP:0001270	Motor delay	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.	241
HP:0001270	HP:0001270	Motor delay	0	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII	.
HP:0001270	HP:0001270	Motor delay	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0001270	HP:0001270	Motor delay	0	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive		18
HP:0001270	HP:0001270	Motor delay	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0001270	HP:0001270	Motor delay	0	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent	80
HP:0001270	HP:0001270	Motor delay	0	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive	.	80
HP:0001270	HP:0001270	Motor delay	0	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0001270	HP:0001270	Motor delay	0	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9		1
HP:0001270	HP:0001270	Motor delay	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX		1
HP:0001270	HP:0001270	Motor delay	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0001270	HP:0001270	Motor delay	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040282 - Frequent	103
HP:0001270	HP:0001270	Motor delay	0	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0001270	HP:0001270	Motor delay	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.	1
HP:0001270	HP:0001270	Motor delay	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0001270	HP:0001270	Motor delay	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0001270	HP:0001270	Motor delay	0	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI		4
HP:0001270	HP:0001270	Motor delay	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0001270	HP:0001270	Motor delay	0	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0001270	HP:0001270	Motor delay	0	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14		4
HP:0001270	HP:0001270	Motor delay	0	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0001270	HP:0001270	Motor delay	0	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0001270	HP:0001270	Motor delay	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0001270	HP:0001270	Motor delay	0	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8		5
HP:0001270	HP:0001270	Motor delay	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0001270	HP:0001270	Motor delay	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	HP:0040283 - Occasional	44
HP:0001270	HP:0001270	Motor delay	0	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy	HP:0040282 - Frequent	37
HP:0001270	HP:0001270	Motor delay	0	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5		37
HP:0001270	HP:0001270	Motor delay	0	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2		71
HP:0001270	HP:0001270	Motor delay	0	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0001270	HP:0001270	Motor delay	0	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0001270	HP:0001270	Motor delay	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant		47
HP:0001270	HP:0001270	Motor delay	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040282 - Frequent	54
HP:0001270	HP:0001270	Motor delay	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	54
HP:0001270	HP:0001270	Motor delay	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	54
HP:0001270	HP:0001270	Motor delay	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.	54
HP:0001270	HP:0001270	Motor delay	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040282 - Frequent	108
HP:0001270	HP:0001270	Motor delay	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	108
HP:0001270	HP:0001270	Motor delay	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	108
HP:0001270	HP:0001270	Motor delay	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	108
HP:0001270	HP:0001270	Motor delay	0	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.	108
HP:0001270	HP:0001270	Motor delay	0	TRAPPC10 CL E G H	7109	11868	OMIM:620027			1
HP:0001270	HP:0001270	Motor delay	0	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0001270	HP:0001270	Motor delay	0	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13		158
HP:0001270	HP:0001270	Motor delay	0	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R		3
HP:0001270	HP:0001270	Motor delay	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0001270	HP:0001270	Motor delay	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0001270	HP:0001270	Motor delay	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44	.	8
HP:0001270	HP:0001270	Motor delay	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia	.	133
HP:0001270	HP:0001270	Motor delay	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0001270	HP:0001270	Motor delay	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040282 - Frequent	4
HP:0001270	HP:0001270	Motor delay	0	TRIP4 CL E G H	9325	12310	OMIM:617066	Muscular dystrophy, congenital, Davignon-Chauveau type	.	4
HP:0001270	HP:0001270	Motor delay	0	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35		12
HP:0001270	HP:0001270	Motor delay	0	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68		1
HP:0001270	HP:0001270	Motor delay	0	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1	.	7
HP:0001270	HP:0001270	Motor delay	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency		101
HP:0001270	HP:0001270	Motor delay	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0001270	HP:0001270	Motor delay	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001270	HP:0001270	Motor delay	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001270	HP:0001270	Motor delay	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001270	HP:0001270	Motor delay	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0001270	HP:0001270	Motor delay	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001270	HP:0001270	Motor delay	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001270	HP:0001270	Motor delay	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0001270	HP:0001270	Motor delay	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001270	HP:0001270	Motor delay	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0001270	HP:0001270	Motor delay	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001270	HP:0001270	Motor delay	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.	214
HP:0001270	HP:0001270	Motor delay	0	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal	.	4
HP:0001270	HP:0001270	Motor delay	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0001270	HP:0001270	Motor delay	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	3
HP:0001270	HP:0001270	Motor delay	0	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F	HP:0040283 - Occasional	3
HP:0001270	HP:0001270	Motor delay	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	84
HP:0001270	HP:0001270	Motor delay	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	57
HP:0001270	HP:0001270	Motor delay	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	102
HP:0001270	HP:0001270	Motor delay	0	TSHR CL E G H	7253	12373	ORPHA:99819	Familial gestational hyperthyroidism	HP:0040282 - Frequent	97
HP:0001270	HP:0001270	Motor delay	0	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor	HP:0040282 - Frequent	97
HP:0001270	HP:0001270	Motor delay	0	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune	.	97
HP:0001270	HP:0001270	Motor delay	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0001270	HP:0001270	Motor delay	0	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent	2
HP:0001270	HP:0001270	Motor delay	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0001270	HP:0001270	Motor delay	0	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39		11
HP:0001270	HP:0001270	Motor delay	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent	7128
HP:0001270	HP:0001270	Motor delay	0	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy		7128
HP:0001270	HP:0001270	Motor delay	0	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy	.	7128
HP:0001270	HP:0001270	Motor delay	0	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3	.	106
HP:0001270	HP:0001270	Motor delay	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.	14
HP:0001270	HP:0001270	Motor delay	0	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7	.	39
HP:0001270	HP:0001270	Motor delay	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation		64
HP:0001270	HP:0001270	Motor delay	0	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	.	66
HP:0001270	HP:0001270	Motor delay	0	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent	14
HP:0001270	HP:0001270	Motor delay	0	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0001270	HP:0001270	Motor delay	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0001270	HP:0001270	Motor delay	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome		278
HP:0001270	HP:0001270	Motor delay	0	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13		278
HP:0001270	HP:0001270	Motor delay	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0001270	HP:0001270	Motor delay	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0001270	HP:0001270	Motor delay	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0001270	HP:0001270	Motor delay	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040281 - Very frequent	23
HP:0001270	HP:0001270	Motor delay	0	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency		44
HP:0001270	HP:0001270	Motor delay	0	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001270	HP:0001270	Motor delay	0	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I	.	173
HP:0001270	HP:0001270	Motor delay	0	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic	.	2
HP:0001270	HP:0001270	Motor delay	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	2
HP:0001270	HP:0001270	Motor delay	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0001270	HP:0001270	Motor delay	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104
HP:0001270	HP:0001270	Motor delay	0	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy	HP:0040283 - Occasional	10
HP:0001270	HP:0001270	Motor delay	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546
HP:0001270	HP:0001270	Motor delay	0	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4	HP:0040284 - Very rare
HP:0001270	HP:0001270	Motor delay	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0001270	HP:0001270	Motor delay	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0001270	HP:0001270	Motor delay	0	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0001270	HP:0001270	Motor delay	0	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG		1
HP:0001270	HP:0001270	Motor delay	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0001270	HP:0001270	Motor delay	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1		32
HP:0001270	HP:0001270	Motor delay	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0001270	HP:0001270	Motor delay	0	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:0001270	HP:0001270	Motor delay	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040281 - Very frequent	20
HP:0001270	HP:0001270	Motor delay	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0001270	HP:0001270	Motor delay	0	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43		25
HP:0001270	HP:0001270	Motor delay	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome		8
HP:0001270	HP:0001270	Motor delay	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome		8
HP:0001270	HP:0001270	Motor delay	0	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0001270	HP:0001270	Motor delay	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations		224
HP:0001270	HP:0001270	Motor delay	0	WDR73 CL E G H	84942	25928	ORPHA:83472	CAMOS syndrome	HP:0040281 - Very frequent	14
HP:0001270	HP:0001270	Motor delay	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0001270	HP:0001270	Motor delay	0	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:0001270	HP:0001270	Motor delay	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14
HP:0001270	HP:0001270	Motor delay	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001270	HP:0001270	Motor delay	0	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0001270	HP:0001270	Motor delay	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0001270	HP:0001270	Motor delay	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0001270	HP:0001270	Motor delay	0	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69
HP:0001270	HP:0001270	Motor delay	0	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2	.	9
HP:0001270	HP:0001270	Motor delay	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0001270	HP:0001270	Motor delay	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0001270	HP:0001270	Motor delay	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0001270	HP:0001270	Motor delay	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0001270	HP:0001270	Motor delay	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0001270	HP:0001270	Motor delay	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0001270	HP:0001270	Motor delay	0	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30		24
HP:0001270	HP:0001270	Motor delay	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies		4
HP:0001270	HP:0001270	Motor delay	0	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0001270	HP:0001270	Motor delay	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	14
HP:0001270	HP:0001270	Motor delay	0	ZNF592 CL E G H	9640	28986	ORPHA:83472	CAMOS syndrome	HP:0040281 - Very frequent	4
HP:0001270	HP:0001270	Motor delay	0	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97		34
HP:0001270	HP:0001270	Motor delay	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features		5
HP:0001270	HP:0002194	Delayed gross motor development	1	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0001270	HP:0002194	Delayed gross motor development	1	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0001270	HP:0002194	Delayed gross motor development	1	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0001270	HP:0002194	Delayed gross motor development	1	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia		25
HP:0001270	HP:0002194	Delayed gross motor development	1	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia	HP:0040283 - Occasional	25
HP:0001270	HP:0002194	Delayed gross motor development	1	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD		25
HP:0001270	HP:0002194	Delayed gross motor development	1	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0001270	HP:0002194	Delayed gross motor development	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	127
HP:0001270	HP:0002194	Delayed gross motor development	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome		36
HP:0001270	HP:0002194	Delayed gross motor development	1	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome		36
HP:0001270	HP:0002194	Delayed gross motor development	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0001270	HP:0002194	Delayed gross motor development	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	1
HP:0001270	HP:0002194	Delayed gross motor development	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0001270	HP:0002194	Delayed gross motor development	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0001270	HP:0002194	Delayed gross motor development	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		114
HP:0001270	HP:0002194	Delayed gross motor development	1	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome		25
HP:0001270	HP:0002194	Delayed gross motor development	1	AMPD2 CL E G H	271	469	ORPHA:401805	Autosomal recessive spastic paraplegia type 63	HP:0040282 - Frequent	21
HP:0001270	HP:0002194	Delayed gross motor development	1	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive		21
HP:0001270	HP:0002194	Delayed gross motor development	1	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0001270	HP:0002194	Delayed gross motor development	1	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10		1
HP:0001270	HP:0010862	Delayed fine motor development	1	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10		1
HP:0001270	HP:0002194	Delayed gross motor development	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0001270	HP:0002194	Delayed gross motor development	1	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8		62
HP:0001270	HP:0002194	Delayed gross motor development	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0001270	HP:0002194	Delayed gross motor development	1	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25		1
HP:0001270	HP:0002194	Delayed gross motor development	1	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0001270	HP:0002194	Delayed gross motor development	1	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13		4
HP:0001270	HP:0002194	Delayed gross motor development	1	ATP1A1 CL E G H	476	799	ORPHA:564178	Primary hypomagnesemia with refractory seizures and intellectual disability	HP:0040282 - Frequent	4
HP:0001270	HP:0002194	Delayed gross motor development	1	ATP6V0A1 CL E G H	535	865	OMIM:619970			1
HP:0001270	HP:0002194	Delayed gross motor development	1	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3		3
HP:0001270	HP:0010862	Delayed fine motor development	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0001270	HP:0002194	Delayed gross motor development	1	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS		2
HP:0001270	HP:0002194	Delayed gross motor 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:0001270	HP:0002194	Delayed gross motor development	1	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome		17
HP:0001270	HP:0002194	Delayed gross motor development	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	99
HP:0001270	HP:0002194	Delayed gross motor development	1	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII	HP:0040283 - Occasional	49
HP:0001270	HP:0002194	Delayed gross motor development	1	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures		20
HP:0001270	HP:0002194	Delayed gross motor development	1	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis		10
HP:0001270	HP:0002194	Delayed gross motor development	1	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		53
HP:0001270	HP:0002194	Delayed gross motor development	1	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0001270	HP:0002194	Delayed gross motor development	1	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0001270	HP:0002194	Delayed gross motor development	1	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0001270	HP:0032988	Persistent head lag	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001270	HP:0010862	Delayed fine motor development	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001270	HP:0002194	Delayed gross motor development	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001270	HP:0002194	Delayed gross motor development	1	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0001270	HP:0002194	Delayed gross motor development	1	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0001270	HP:0002194	Delayed gross motor development	1	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001270	HP:0010862	Delayed fine motor development	1	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001270	HP:0010862	Delayed fine motor development	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0001270	HP:0010862	Delayed fine motor development	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0001270	HP:0002194	Delayed gross motor development	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0001270	HP:0002194	Delayed gross motor development	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0001270	HP:0032988	Persistent head lag	1	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia		3
HP:0001270	HP:0002194	Delayed gross motor development	1	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	405
HP:0001270	HP:0002194	Delayed gross motor development	1	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040282 - Frequent	405
HP:0001270	HP:0002194	Delayed gross motor development	1	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0001270	HP:0002194	Delayed gross motor development	1	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0001270	HP:0002194	Delayed gross motor development	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0001270	HP:0002194	Delayed gross motor development	1	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome		2
HP:0001270	HP:0002194	Delayed gross motor development	1	CHKA CL E G H	1119	1937	OMIM:620023
HP:0001270	HP:0002194	Delayed gross motor development	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0001270	HP:0002194	Delayed gross motor development	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	74
HP:0001270	HP:0002194	Delayed gross motor development	1	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel		53
HP:0001270	HP:0002194	Delayed gross motor development	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	53
HP:0001270	HP:0002194	Delayed gross motor development	1	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel		88
HP:0001270	HP:0002194	Delayed gross motor development	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	88
HP:0001270	HP:0002194	Delayed gross motor development	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	139
HP:0001270	HP:0002194	Delayed gross motor development	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0001270	HP:0002194	Delayed gross motor development	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	27
HP:0001270	HP:0002194	Delayed gross motor development	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0001270	HP:0002194	Delayed gross motor development	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0001270	HP:0010862	Delayed fine motor development	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0001270	HP:0010862	Delayed fine motor development	1	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0001270	HP:0002194	Delayed gross motor development	1	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0001270	HP:0010862	Delayed fine motor development	1	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development	.	102
HP:0001270	HP:0002194	Delayed gross motor development	1	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development	.	102
HP:0001270	HP:0002194	Delayed gross motor development	1	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		9
HP:0001270	HP:0002194	Delayed gross motor development	1	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		27
HP:0001270	HP:0002194	Delayed gross motor development	1	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0001270	HP:0010862	Delayed fine motor development	1	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040281 - Very frequent	7
HP:0001270	HP:0002194	Delayed gross motor development	1	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040281 - Very frequent	7
HP:0001270	HP:0002194	Delayed gross motor development	1	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040282 - Frequent	38
HP:0001270	HP:0002194	Delayed gross motor development	1	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG		18
HP:0001270	HP:0002194	Delayed gross motor development	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0001270	HP:0010862	Delayed fine motor development	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0001270	HP:0002194	Delayed gross motor development	1	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0001270	HP:0002194	Delayed gross motor development	1	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1	.	518
HP:0001270	HP:0002194	Delayed gross motor development	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0001270	HP:0002194	Delayed gross motor development	1	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2		65
HP:0001270	HP:0002194	Delayed gross motor development	1	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome		65
HP:0001270	HP:0010862	Delayed fine motor development	1	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional	65
HP:0001270	HP:0002194	Delayed gross motor development	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	6
HP:0001270	HP:0002194	Delayed gross motor development	1	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.	373
HP:0001270	HP:0002194	Delayed gross motor development	1	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2	.	243
HP:0001270	HP:0002194	Delayed gross motor development	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0001270	HP:0002194	Delayed gross motor development	1	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0001270	HP:0002194	Delayed gross motor development	1	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0001270	HP:0032988	Persistent head lag	1	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0001270	HP:0002194	Delayed gross motor development	1	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63		1
HP:0001270	HP:0002194	Delayed gross motor development	1	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2		19
HP:0001270	HP:0002194	Delayed gross motor development	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0001270	HP:0002194	Delayed gross motor development	1	CSNK2B CL E G H	1460	2460	OMIM:618732	POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS		2
HP:0001270	HP:0002194	Delayed gross motor development	1	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects		88
HP:0001270	HP:0002194	Delayed gross motor development	1	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome		273
HP:0001270	HP:0002194	Delayed gross motor development	1	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0001270	HP:0002194	Delayed gross motor development	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0001270	HP:0002194	Delayed gross motor development	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0001270	HP:0002194	Delayed gross motor development	1	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive		18
HP:0001270	HP:0002194	Delayed gross motor development	1	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3		2
HP:0001270	HP:0002194	Delayed gross motor development	1	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy		108
HP:0001270	HP:0002194	Delayed gross motor development	1	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR		62
HP:0001270	HP:0002194	Delayed gross motor development	1	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0001270	HP:0002194	Delayed gross motor development	1	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language		4
HP:0001270	HP:0032988	Persistent head lag	1	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency		82
HP:0001270	HP:0002194	Delayed gross motor development	1	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency		82
HP:0001270	HP:0002194	Delayed gross motor development	1	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency	.	82
HP:0001270	HP:0002194	Delayed gross motor development	1	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional	1
HP:0001270	HP:0002194	Delayed gross motor development	1	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy		1496
HP:0001270	HP:0002194	Delayed gross motor development	1	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040282 - Frequent	25
HP:0001270	HP:0002194	Delayed gross motor development	1	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0001270	HP:0002194	Delayed gross motor development	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	167
HP:0001270	HP:0002194	Delayed gross motor development	1	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia		3
HP:0001270	HP:0002194	Delayed gross motor development	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	91
HP:0001270	HP:0002194	Delayed gross motor development	1	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0001270	HP:0002194	Delayed gross motor development	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001270	HP:0002194	Delayed gross motor development	1	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0001270	HP:0010862	Delayed fine motor development	1	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0001270	HP:0002194	Delayed gross motor development	1	DPM3 CL E G H	54344	3007	OMIM:618992	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15		9
HP:0001270	HP:0002194	Delayed gross motor development	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001270	HP:0002194	Delayed gross motor development	1	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.	13
HP:0001270	HP:0002194	Delayed gross motor development	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	13
HP:0001270	HP:0002194	Delayed gross motor development	1	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant		427
HP:0001270	HP:0002194	Delayed gross motor development	1	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies		1
HP:0001270	HP:0002194	Delayed gross motor development	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0001270	HP:0010862	Delayed fine motor development	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0001270	HP:0002194	Delayed gross motor development	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	223
HP:0001270	HP:0002194	Delayed gross motor development	1	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0001270	HP:0002194	Delayed gross motor development	1	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0001270	HP:0032988	Persistent head lag	1	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0001270	HP:0002194	Delayed gross motor development	1	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0001270	HP:0002194	Delayed gross motor development	1	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	.	250
HP:0001270	HP:0002194	Delayed gross motor development	1	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive		18
HP:0001270	HP:0002194	Delayed gross motor development	1	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3		3
HP:0001270	HP:0002194	Delayed gross motor development	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0001270	HP:0002194	Delayed gross motor development	1	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD		7
HP:0001270	HP:0032988	Persistent head lag	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001270	HP:0002194	Delayed gross motor development	1	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44		122
HP:0001270	HP:0002194	Delayed gross motor development	1	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome		12
HP:0001270	HP:0002194	Delayed gross motor development	1	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0001270	HP:0002194	Delayed gross motor development	1	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities		7
HP:0001270	HP:0002194	Delayed gross motor 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:0001270	HP:0010862	Delayed fine motor 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:0001270	HP:0002194	Delayed gross motor development	1	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia	.	18
HP:0001270	HP:0010862	Delayed fine motor development	1	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria	HP:0040281 - Very frequent	111
HP:0001270	HP:0002194	Delayed gross motor development	1	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria	HP:0040281 - Very frequent	111
HP:0001270	HP:0002194	Delayed gross motor development	1	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0001270	HP:0002194	Delayed gross motor development	1	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0001270	HP:0002194	Delayed gross motor development	1	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0001270	HP:0002194	Delayed gross motor development	1	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent
HP:0001270	HP:0002194	Delayed gross motor development	1	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0001270	HP:0002194	Delayed gross motor development	1	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040283 - Occasional	111
HP:0001270	HP:0002194	Delayed gross motor development	1	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001270	HP:0010862	Delayed fine motor development	1	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001270	HP:0002194	Delayed gross motor development	1	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0001270	HP:0002194	Delayed gross motor development	1	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0001270	HP:0002194	Delayed gross motor development	1	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104		32
HP:0001270	HP:0002194	Delayed gross motor development	1	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9		13
HP:0001270	HP:0002194	Delayed gross motor development	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		105
HP:0001270	HP:0002194	Delayed gross motor development	1	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset		407
HP:0001270	HP:0002194	Delayed gross motor development	1	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	5
HP:0001270	HP:0002194	Delayed gross motor development	1	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency	.	52
HP:0001270	HP:0002194	Delayed gross motor development	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0001270	HP:0002194	Delayed gross motor development	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0001270	HP:0002194	Delayed gross motor development	1	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0001270	HP:0032988	Persistent head lag	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0001270	HP:0002194	Delayed gross motor development	1	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44	HP:0040283 - Occasional	37
HP:0001270	HP:0002194	Delayed gross motor development	1	GLS CL E G H	2744	4331	OMIM:618412	Global developmental delay, progressive ataxia, and elevated glutamine	.
HP:0001270	HP:0002194	Delayed gross motor development	1	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0001270	HP:0002194	Delayed gross motor development	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0001270	HP:0002194	Delayed gross motor development	1	GRIA1 CL E G H	2890	4571	OMIM:619927			3
HP:0001270	HP:0010862	Delayed fine motor development	1	GRIA1 CL E G H	2890	4571	OMIM:619927			3
HP:0001270	HP:0010862	Delayed fine motor development	1	GRIA1 CL E G H	2890	4571	OMIM:619931			3
HP:0001270	HP:0002194	Delayed gross motor development	1	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0001270	HP:0002194	Delayed gross motor 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:0001270	HP:0002194	Delayed gross motor development	1	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040281 - Very frequent	108
HP:0001270	HP:0002194	Delayed gross motor development	1	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive		108
HP:0001270	HP:0002194	Delayed gross motor development	1	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27		274
HP:0001270	HP:0002194	Delayed gross motor development	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0001270	HP:0002194	Delayed gross motor development	1	HARS1 CL E G H	3035	4816	OMIM:614504	Usher syndrome, type IIIB	.
HP:0001270	HP:0002194	Delayed gross motor development	1	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0001270	HP:0002194	Delayed gross motor development	1	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language		11
HP:0001270	HP:0002194	Delayed gross motor development	1	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38		38
HP:0001270	HP:0002194	Delayed gross motor development	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0001270	HP:0002194	Delayed gross motor development	1	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0001270	HP:0002194	Delayed gross motor development	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0001270	HP:0002194	Delayed gross motor development	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0001270	HP:0002194	Delayed gross motor development	1	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS		34
HP:0001270	HP:0002194	Delayed gross motor development	1	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0001270	HP:0002194	Delayed gross motor development	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0001270	HP:0002194	Delayed gross motor development	1	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0001270	HP:0032988	Persistent head lag	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0001270	HP:0002194	Delayed gross motor development	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0001270	HP:0002194	Delayed gross motor development	1	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0001270	HP:0002194	Delayed gross motor development	1	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome		177
HP:0001270	HP:0002194	Delayed gross motor development	1	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29		177
HP:0001270	HP:0002194	Delayed gross motor development	1	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29	HP:0040281 - Very frequent	177
HP:0001270	HP:0010862	Delayed fine motor development	1	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29	HP:0040281 - Very frequent	177
HP:0001270	HP:0002194	Delayed gross motor development	1	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0001270	HP:0002194	Delayed gross motor development	1	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0001270	HP:0002194	Delayed gross motor development	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0001270	HP:0002194	Delayed gross motor development	1	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0001270	HP:0010862	Delayed fine motor development	1	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0001270	HP:0002194	Delayed gross motor development	1	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0001270	HP:0010862	Delayed fine motor development	1	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0001270	HP:0002194	Delayed gross motor development	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome		3
HP:0001270	HP:0002194	Delayed gross motor development	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0001270	HP:0002194	Delayed gross motor development	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0001270	HP:0010862	Delayed fine motor development	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0001270	HP:0002194	Delayed gross motor development	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0001270	HP:0002194	Delayed gross motor development	1	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0001270	HP:0002194	Delayed gross motor development	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0001270	HP:0002194	Delayed gross motor development	1	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	HP:0040282 - Frequent	4
HP:0001270	HP:0002194	Delayed gross motor development	1	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive	.	9
HP:0001270	HP:0002194	Delayed gross motor development	1	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent	1
HP:0001270	HP:0002194	Delayed gross motor development	1	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103		3
HP:0001270	HP:0002194	Delayed gross motor development	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040282 - Frequent	91
HP:0001270	HP:0002194	Delayed gross motor development	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	99
HP:0001270	HP:0002194	Delayed gross motor development	1	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome		1
HP:0001270	HP:0002194	Delayed gross motor development	1	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome		13
HP:0001270	HP:0002194	Delayed gross motor development	1	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	HP:0040282 - Frequent	3
HP:0001270	HP:0002194	Delayed gross motor development	1	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0001270	HP:0032988	Persistent head lag	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0001270	HP:0002194	Delayed gross motor development	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6		136
HP:0001270	HP:0002194	Delayed gross motor development	1	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1	HP:0040283 - Occasional
HP:0001270	HP:0002194	Delayed gross motor development	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0001270	HP:0032988	Persistent head lag	1	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27		25
HP:0001270	HP:0002194	Delayed gross motor development	1	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0001270	HP:0002194	Delayed gross motor development	1	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27		11
HP:0001270	HP:0002194	Delayed gross motor development	1	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome		124
HP:0001270	HP:0002194	Delayed gross motor development	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	124
HP:0001270	HP:0002194	Delayed gross motor development	1	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040283 - Occasional	125
HP:0001270	HP:0002194	Delayed gross motor development	1	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0001270	HP:0002194	Delayed gross motor development	1	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4		2
HP:0001270	HP:0032988	Persistent head lag	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0001270	HP:0002194	Delayed gross motor development	1	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0001270	HP:0002194	Delayed gross motor development	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome		63
HP:0001270	HP:0002194	Delayed gross motor development	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0001270	HP:0002194	Delayed gross motor development	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0001270	HP:0002194	Delayed gross motor development	1	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57		5
HP:0001270	HP:0002194	Delayed gross motor development	1	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development		3
HP:0001270	HP:0002194	Delayed gross motor development	1	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51		4
HP:0001270	HP:0002194	Delayed gross motor development	1	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	950
HP:0001270	HP:0002194	Delayed gross motor development	1	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0001270	HP:0032988	Persistent head lag	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0001270	HP:0002194	Delayed gross motor development	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0001270	HP:0002194	Delayed gross motor development	1	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities		6
HP:0001270	HP:0002194	Delayed gross motor development	1	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61		4
HP:0001270	HP:0002194	Delayed gross motor development	1	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0001270	HP:0002194	Delayed gross motor development	1	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional	1
HP:0001270	HP:0002194	Delayed gross motor development	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0001270	HP:0002194	Delayed gross motor development	1	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0001270	HP:0002194	Delayed gross motor development	1	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	.	203
HP:0001270	HP:0032988	Persistent head lag	1	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001270	HP:0002194	Delayed gross motor development	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0001270	HP:0002194	Delayed gross motor development	1	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16		3
HP:0001270	HP:0010862	Delayed fine motor development	1	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16		3
HP:0001270	HP:0002194	Delayed gross motor development	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0001270	HP:0002194	Delayed gross motor development	1	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN		8
HP:0001270	HP:0002194	Delayed gross motor development	1	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2		134
HP:0001270	HP:0032988	Persistent head lag	1	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2		134
HP:0001270	HP:0002194	Delayed gross motor development	1	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0001270	HP:0002194	Delayed gross motor development	1	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0001270	HP:0002194	Delayed gross motor development	1	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0001270	HP:0002194	Delayed gross motor development	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0001270	HP:0002194	Delayed gross motor development	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	7
HP:0001270	HP:0002194	Delayed gross motor development	1	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive		19
HP:0001270	HP:0002194	Delayed gross motor development	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	72
HP:0001270	HP:0002194	Delayed gross motor development	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	19
HP:0001270	HP:0002194	Delayed gross motor development	1	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	1269
HP:0001270	HP:0032988	Persistent head lag	1	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0001270	HP:0002194	Delayed gross motor development	1	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0001270	HP:0002194	Delayed gross motor development	1	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39		13
HP:0001270	HP:0002194	Delayed gross motor development	1	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional	23
HP:0001270	HP:0032988	Persistent head lag	1	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0001270	HP:0002194	Delayed gross motor development	1	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0001270	HP:0002194	Delayed gross motor development	1	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0001270	HP:0002194	Delayed gross motor development	1	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE		3
HP:0001270	HP:0002194	Delayed gross motor development	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome		2
HP:0001270	HP:0002194	Delayed gross motor development	1	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0001270	HP:0002194	Delayed gross motor development	1	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46		27
HP:0001270	HP:0010862	Delayed fine motor development	1	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46		27
HP:0001270	HP:0002194	Delayed gross motor development	1	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12		7
HP:0001270	HP:0002194	Delayed gross motor development	1	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23		7
HP:0001270	HP:0002194	Delayed gross motor development	1	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0001270	HP:0002194	Delayed gross motor development	1	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0001270	HP:0002194	Delayed gross motor development	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0001270	HP:0002194	Delayed gross motor development	1	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0001270	HP:0002194	Delayed gross motor development	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0001270	HP:0002194	Delayed gross motor development	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0001270	HP:0002194	Delayed gross motor development	1	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0001270	HP:0002194	Delayed gross motor development	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040282 - Frequent	10
HP:0001270	HP:0002194	Delayed gross motor development	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0001270	HP:0032988	Persistent head lag	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0001270	HP:0002194	Delayed gross motor development	1	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4	.	85
HP:0001270	HP:0032988	Persistent head lag	1	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0001270	HP:0002194	Delayed gross motor development	1	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	1
HP:0001270	HP:0002194	Delayed gross motor development	1	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21		89
HP:0001270	HP:0002194	Delayed gross motor development	1	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0001270	HP:0002194	Delayed gross motor development	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0001270	HP:0002194	Delayed gross motor development	1	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency
HP:0001270	HP:0002194	Delayed gross motor development	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0001270	HP:0002194	Delayed gross motor development	1	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies		4
HP:0001270	HP:0002194	Delayed gross motor development	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0001270	HP:0002194	Delayed gross motor development	1	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0001270	HP:0002194	Delayed gross motor development	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation		231
HP:0001270	HP:0002194	Delayed gross motor development	1	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0001270	HP:0002194	Delayed gross motor development	1	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0001270	HP:0002194	Delayed gross motor development	1	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0001270	HP:0002194	Delayed gross motor development	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0001270	HP:0002194	Delayed gross motor development	1	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia		217
HP:0001270	HP:0002194	Delayed gross motor development	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	54
HP:0001270	HP:0002194	Delayed gross motor development	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0001270	HP:0002194	Delayed gross motor development	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	48
HP:0001270	HP:0010862	Delayed fine motor development	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0001270	HP:0002194	Delayed gross motor development	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0001270	HP:0002194	Delayed gross motor development	1	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch		77
HP:0001270	HP:0002194	Delayed gross motor development	1	PIGC CL E G H	5279	8960	OMIM:617816	Glycosylphosphatidylinositol biosynthesis defect 16		1
HP:0001270	HP:0002194	Delayed gross motor development	1	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome		7
HP:0001270	HP:0002194	Delayed gross motor development	1	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0001270	HP:0002194	Delayed gross motor development	1	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040283 - Occasional	759
HP:0001270	HP:0002194	Delayed gross motor development	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0001270	HP:0002194	Delayed gross motor development	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional	105
HP:0001270	HP:0002194	Delayed gross motor development	1	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form		60
HP:0001270	HP:0002194	Delayed gross motor development	1	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3		7
HP:0001270	HP:0002194	Delayed gross motor development	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0001270	HP:0002194	Delayed gross motor development	1	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy		65
HP:0001270	HP:0002194	Delayed gross motor development	1	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11		38
HP:0001270	HP:0002194	Delayed gross motor development	1	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0001270	HP:0002194	Delayed gross motor development	1	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0001270	HP:0002194	Delayed gross motor development	1	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0001270	HP:0002194	Delayed gross motor development	1	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12		18
HP:0001270	HP:0002194	Delayed gross motor development	1	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14	HP:0040282 - Frequent	221
HP:0001270	HP:0010862	Delayed fine motor 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:0001270	HP:0002194	Delayed gross motor development	1	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities		2
HP:0001270	HP:0002194	Delayed gross motor development	1	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36	.	13
HP:0001270	HP:0002194	Delayed gross motor development	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0001270	HP:0002194	Delayed gross motor development	1	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35		10
HP:0001270	HP:0002194	Delayed gross motor development	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001270	HP:0002194	Delayed gross motor development	1	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures		6
HP:0001270	HP:0002194	Delayed gross motor development	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional	948
HP:0001270	HP:0002194	Delayed gross motor development	1	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0001270	HP:0002194	Delayed gross motor development	1	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0001270	HP:0002194	Delayed gross motor development	1	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2		90
HP:0001270	HP:0002194	Delayed gross motor development	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0001270	HP:0002194	Delayed gross motor development	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome		150
HP:0001270	HP:0002194	Delayed gross motor development	1	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0001270	HP:0002194	Delayed gross motor development	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	73
HP:0001270	HP:0002194	Delayed gross motor development	1	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0001270	HP:0002194	Delayed gross motor development	1	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3		3
HP:0001270	HP:0002194	Delayed gross motor development	1	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7
HP:0001270	HP:0002194	Delayed gross motor development	1	RNU12 CL E G H	267010	19380	ORPHA:512260	Congenital cerebellar ataxia due to RNU12 mutation	HP:0040282 - Frequent
HP:0001270	HP:0002194	Delayed gross motor development	1	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1		90
HP:0001270	HP:0002194	Delayed gross motor development	1	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA		1
HP:0001270	HP:0002194	Delayed gross motor development	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0001270	HP:0002194	Delayed gross motor development	1	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional
HP:0001270	HP:0002194	Delayed gross motor 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:0001270	HP:0002194	Delayed gross motor development	1	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15		9
HP:0001270	HP:0002194	Delayed gross motor development	1	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0001270	HP:0002194	Delayed gross motor development	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	1200
HP:0001270	HP:0002194	Delayed gross motor development	1	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0001270	HP:0002194	Delayed gross motor development	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0001270	HP:0002194	Delayed gross motor development	1	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement	HP:0040282 - Frequent	1200
HP:0001270	HP:0002194	Delayed gross motor development	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001270	HP:0002194	Delayed gross motor development	1	SCN2A CL E G H	6326	10588	OMIM:618924	EPISODIC ATAXIA, TYPE 9; EA9		427
HP:0001270	HP:0002194	Delayed gross motor development	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	263
HP:0001270	HP:0002194	Delayed gross motor development	1	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0001270	HP:0002194	Delayed gross motor development	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040280 - Obligate
HP:0001270	HP:0002194	Delayed gross motor development	1	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	144
HP:0001270	HP:0002194	Delayed gross motor development	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1		144
HP:0001270	HP:0002194	Delayed gross motor development	1	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0001270	HP:0002194	Delayed gross motor development	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0001270	HP:0002194	Delayed gross motor 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:0001270	HP:0002194	Delayed gross motor development	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0001270	HP:0002194	Delayed gross motor development	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001270	HP:0002194	Delayed gross motor development	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0001270	HP:0002194	Delayed gross motor development	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		6
HP:0001270	HP:0002194	Delayed gross motor development	1	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0001270	HP:0010862	Delayed fine motor development	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0001270	HP:0002194	Delayed gross motor development	1	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES		2
HP:0001270	HP:0002194	Delayed gross motor development	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome		57
HP:0001270	HP:0002194	Delayed gross motor development	1	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2		2
HP:0001270	HP:0002194	Delayed gross motor development	1	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic		28
HP:0001270	HP:0002194	Delayed gross motor development	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0001270	HP:0032988	Persistent head lag	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0001270	HP:0002194	Delayed gross motor development	1	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression		1
HP:0001270	HP:0002194	Delayed gross motor development	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001270	HP:0002194	Delayed gross motor development	1	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN		11
HP:0001270	HP:0002194	Delayed gross motor development	1	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic		9
HP:0001270	HP:0002194	Delayed gross motor development	1	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1	.	13
HP:0001270	HP:0002194	Delayed gross motor development	1	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0001270	HP:0002194	Delayed gross motor development	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0001270	HP:0002194	Delayed gross motor development	1	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0001270	HP:0002194	Delayed gross motor development	1	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	135
HP:0001270	HP:0002194	Delayed gross motor 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:0001270	HP:0002194	Delayed gross motor development	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040283 - Occasional	164
HP:0001270	HP:0002194	Delayed gross motor development	1	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18		2
HP:0001270	HP:0002194	Delayed gross motor development	1	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13		37
HP:0001270	HP:0002194	Delayed gross motor 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:0001270	HP:0010862	Delayed fine motor 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:0001270	HP:0010862	Delayed fine motor development	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20		14
HP:0001270	HP:0002194	Delayed gross motor development	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20		14
HP:0001270	HP:0002194	Delayed gross motor development	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0001270	HP:0002194	Delayed gross motor development	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		287
HP:0001270	HP:0002194	Delayed gross motor development	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0001270	HP:0002194	Delayed gross motor development	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0001270	HP:0010862	Delayed fine motor development	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001270	HP:0032988	Persistent head lag	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001270	HP:0002194	Delayed gross motor development	1	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness		3
HP:0001270	HP:0002194	Delayed gross motor development	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		54
HP:0001270	HP:0002194	Delayed gross motor development	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0001270	HP:0002194	Delayed gross motor development	1	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities		1
HP:0001270	HP:0002194	Delayed gross motor development	1	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.	66
HP:0001270	HP:0002194	Delayed gross motor development	1	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	HP:0040281 - Very frequent	66
HP:0001270	HP:0032988	Persistent head lag	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0001270	HP:0002194	Delayed gross motor development	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0001270	HP:0002194	Delayed gross motor development	1	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type	.	1129
HP:0001270	HP:0002194	Delayed gross motor development	1	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome		1
HP:0001270	HP:0002194	Delayed gross motor development	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0001270	HP:0002194	Delayed gross motor 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:0001270	HP:0002194	Delayed gross motor development	1	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0001270	HP:0002194	Delayed gross motor development	1	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome		12
HP:0001270	HP:0002194	Delayed gross motor development	1	TBR1 CL E G H	10716	11590	OMIM:606053	Intellectual developmental disorder with autism and speech delay		1
HP:0001270	HP:0002194	Delayed gross motor development	1	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities		1
HP:0001270	HP:0010862	Delayed fine motor development	1	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0001270	HP:0002194	Delayed gross motor development	1	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0001270	HP:0002194	Delayed gross motor development	1	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive		18
HP:0001270	HP:0002194	Delayed gross motor development	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0001270	HP:0002194	Delayed gross motor development	1	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040281 - Very frequent	1
HP:0001270	HP:0032988	Persistent head lag	1	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX		1
HP:0001270	HP:0002194	Delayed gross motor development	1	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX		1
HP:0001270	HP:0002194	Delayed gross motor development	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.	103
HP:0001270	HP:0002194	Delayed gross motor development	1	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0001270	HP:0002194	Delayed gross motor development	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0001270	HP:0002194	Delayed gross motor development	1	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0001270	HP:0002194	Delayed gross motor development	1	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0001270	HP:0002194	Delayed gross motor development	1	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0001270	HP:0002194	Delayed gross motor development	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0001270	HP:0010862	Delayed fine motor development	1	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8		5
HP:0001270	HP:0002194	Delayed gross motor development	1	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8		5
HP:0001270	HP:0002194	Delayed gross motor development	1	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44
HP:0001270	HP:0002194	Delayed gross motor development	1	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5		37
HP:0001270	HP:0002194	Delayed gross motor development	1	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2		71
HP:0001270	HP:0010862	Delayed fine motor development	1	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0001270	HP:0002194	Delayed gross motor development	1	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0001270	HP:0002194	Delayed gross motor development	1	TRAPPC10 CL E G H	7109	11868	OMIM:620027			1
HP:0001270	HP:0010862	Delayed fine motor development	1	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0001270	HP:0002194	Delayed gross motor development	1	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0001270	HP:0002194	Delayed gross motor development	1	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13		158
HP:0001270	HP:0002194	Delayed gross motor development	1	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R		3
HP:0001270	HP:0002194	Delayed gross motor development	1	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0001270	HP:0002194	Delayed gross motor development	1	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0001270	HP:0002194	Delayed gross motor development	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0001270	HP:0002194	Delayed gross motor development	1	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35		12
HP:0001270	HP:0002194	Delayed gross motor development	1	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68		1
HP:0001270	HP:0002194	Delayed gross motor development	1	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040284 - Very rare	101
HP:0001270	HP:0002194	Delayed gross motor development	1	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040284 - Very rare
HP:0001270	HP:0002194	Delayed gross motor development	1	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0001270	HP:0010862	Delayed fine motor development	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0001270	HP:0002194	Delayed gross motor development	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0001270	HP:0010862	Delayed fine motor development	1	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F		3
HP:0001270	HP:0002194	Delayed gross motor development	1	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F		3
HP:0001270	HP:0002194	Delayed gross motor development	1	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0001270	HP:0002194	Delayed gross motor development	1	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39		11
HP:0001270	HP:0002194	Delayed gross motor development	1	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	7128
HP:0001270	HP:0002194	Delayed gross motor development	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent	64
HP:0001270	HP:0010862	Delayed fine motor development	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent	64
HP:0001270	HP:0002194	Delayed gross motor development	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040281 - Very frequent	7
HP:0001270	HP:0002194	Delayed gross motor development	1	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13		278
HP:0001270	HP:0002194	Delayed gross motor development	1	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0001270	HP:0032988	Persistent head lag	1	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0001270	HP:0002194	Delayed gross motor development	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0001270	HP:0002194	Delayed gross motor development	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0001270	HP:0002194	Delayed gross motor development	1	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0001270	HP:0010862	Delayed fine motor development	1	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43		25
HP:0001270	HP:0002194	Delayed gross motor development	1	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43		25
HP:0001270	HP:0002194	Delayed gross motor development	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome		8
HP:0001270	HP:0002194	Delayed gross motor development	1	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome		8
HP:0001270	HP:0002194	Delayed gross motor development	1	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0001270	HP:0010862	Delayed fine motor development	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0001270	HP:0002194	Delayed gross motor development	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0001270	HP:0002194	Delayed gross motor development	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14
HP:0001270	HP:0002194	Delayed gross motor development	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001270	HP:0002194	Delayed gross motor development	1	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0001270	HP:0002194	Delayed gross motor development	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0001270	HP:0002194	Delayed gross motor development	1	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69
HP:0001270	HP:0002194	Delayed gross motor development	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0001270	HP:0002194	Delayed gross motor development	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0001270	HP:0002194	Delayed gross motor development	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0001270	HP:0002194	Delayed gross motor development	1	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies		4
HP:0001270	HP:0002194	Delayed gross motor development	1	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0001270	HP:0002194	Delayed gross motor development	1	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features		5
HP:0001270	HP:0033257	Delayed ability to walk with support	2	CL E G H
HP:0001270	HP:0031936	Delayed ability to walk	2	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0001270	HP:0031936	Delayed ability to walk	2	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0001270	HP:0031936	Delayed ability to walk	2	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0001270	HP:0025336	Delayed ability to sit	2	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia		25
HP:0001270	HP:0031936	Delayed ability to walk	2	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia		25
HP:0001270	HP:0032989	Delayed ability to roll over	2	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD		25
HP:0001270	HP:0031936	Delayed ability to walk	2	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD		25
HP:0001270	HP:0025336	Delayed ability to sit	2	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD		25
HP:0001270	HP:0025336	Delayed ability to sit	2	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0001270	HP:0031936	Delayed ability to walk	2	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0001270	HP:0031936	Delayed ability to walk	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:0001270	HP:0025336	Delayed ability to sit	2	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome		36
HP:0001270	HP:0031936	Delayed ability to walk	2	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.	175
HP:0001270	HP:0025335	Delayed ability to stand	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0001270	HP:0031936	Delayed ability to walk	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0001270	HP:0025336	Delayed ability to sit	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0001270	HP:0031936	Delayed ability to walk	2	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	114
HP:0001270	HP:0031936	Delayed ability to walk	2	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional	25
HP:0001270	HP:0031936	Delayed ability to walk	2	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive	.	21
HP:0001270	HP:0031936	Delayed ability to walk	2	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0001270	HP:0025336	Delayed ability to sit	2	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0001270	HP:0031936	Delayed ability to walk	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0001270	HP:0031936	Delayed ability to walk	2	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8		62
HP:0001270	HP:0031936	Delayed ability to walk	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0001270	HP:0031936	Delayed ability to walk	2	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25	.	1
HP:0001270	HP:0031936	Delayed ability to walk	2	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0001270	HP:0031936	Delayed ability to walk	2	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent	4
HP:0001270	HP:0031936	Delayed ability to walk	2	ATP6V0A1 CL E G H	535	865	OMIM:619970			1
HP:0001270	HP:0032989	Delayed ability to roll over	2	ATP6V0A1 CL E G H	535	865	OMIM:619970			1
HP:0001270	HP:0031936	Delayed ability to walk	2	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3	.	3
HP:0001270	HP:0031936	Delayed ability to walk	2	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.	3
HP:0001270	HP:0031936	Delayed ability to walk	2	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.	20
HP:0001270	HP:0031936	Delayed ability to walk	2	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.	10
HP:0001270	HP:0031936	Delayed ability to walk	2	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent	53
HP:0001270	HP:0025335	Delayed ability to stand	2	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent	53
HP:0001270	HP:0031936	Delayed ability to walk	2	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0001270	HP:0031936	Delayed ability to walk	2	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53	.	1
HP:0001270	HP:0031936	Delayed ability to walk	2	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0001270	HP:0025336	Delayed ability to sit	2	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0001270	HP:0031936	Delayed ability to walk	2	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0001270	HP:0031936	Delayed ability to walk	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.	8
HP:0001270	HP:0025336	Delayed ability to sit	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0001270	HP:0031936	Delayed ability to walk	2	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0001270	HP:0033128	Delayed ability to crawl	2	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0001270	HP:0032989	Delayed ability to roll over	2	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0001270	HP:0025336	Delayed ability to sit	2	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0001270	HP:0031936	Delayed ability to walk	2	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0001270	HP:0031936	Delayed ability to walk	2	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0001270	HP:0031936	Delayed ability to walk	2	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.	2
HP:0001270	HP:0031936	Delayed ability to walk	2	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0001270	HP:0025336	Delayed ability to sit	2	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel		53
HP:0001270	HP:0031936	Delayed ability to walk	2	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel		53
HP:0001270	HP:0025336	Delayed ability to sit	2	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel		88
HP:0001270	HP:0031936	Delayed ability to walk	2	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0001270	HP:0025335	Delayed ability to stand	2	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent	9
HP:0001270	HP:0031936	Delayed ability to walk	2	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent	9
HP:0001270	HP:0025335	Delayed ability to stand	2	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent	27
HP:0001270	HP:0031936	Delayed ability to walk	2	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent	27
HP:0001270	HP:0031936	Delayed ability to walk	2	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0001270	HP:0025336	Delayed ability to sit	2	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0001270	HP:0031936	Delayed ability to walk	2	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG		18
HP:0001270	HP:0031936	Delayed ability to walk	2	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0001270	HP:0031936	Delayed ability to walk	2	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0001270	HP:0031936	Delayed ability to walk	2	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.	52
HP:0001270	HP:0031936	Delayed ability to walk	2	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2	.	65
HP:0001270	HP:0031936	Delayed ability to walk	2	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040282 - Frequent	65
HP:0001270	HP:0025335	Delayed ability to stand	2	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040282 - Frequent	65
HP:0001270	HP:0031936	Delayed ability to walk	2	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0001270	HP:0025336	Delayed ability to sit	2	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0001270	HP:0031936	Delayed ability to walk	2	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0001270	HP:0031936	Delayed ability to walk	2	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63	.	1
HP:0001270	HP:0031936	Delayed ability to walk	2	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2		19
HP:0001270	HP:0031936	Delayed ability to walk	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0001270	HP:0031936	Delayed ability to walk	2	CSNK2B CL E G H	1460	2460	OMIM:618732	POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS		2
HP:0001270	HP:0033128	Delayed ability to crawl	2	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects		88
HP:0001270	HP:0031936	Delayed ability to walk	2	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects		88
HP:0001270	HP:0025336	Delayed ability to sit	2	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects		88
HP:0001270	HP:0031936	Delayed ability to walk	2	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional	273
HP:0001270	HP:0025336	Delayed ability to sit	2	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0001270	HP:0031936	Delayed ability to walk	2	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0001270	HP:0031936	Delayed ability to walk	2	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0001270	HP:0031936	Delayed ability to walk	2	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive		18
HP:0001270	HP:0031936	Delayed ability to walk	2	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3		2
HP:0001270	HP:0031936	Delayed ability to walk	2	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	HP:0040282 - Frequent	108
HP:0001270	HP:0025336	Delayed ability to sit	2	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	HP:0040282 - Frequent	108
HP:0001270	HP:0031936	Delayed ability to walk	2	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR		62
HP:0001270	HP:0031936	Delayed ability to walk	2	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	.
HP:0001270	HP:0031936	Delayed ability to walk	2	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.	4
HP:0001270	HP:0031936	Delayed ability to walk	2	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040282 - Frequent	82
HP:0001270	HP:0025335	Delayed ability to stand	2	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040282 - Frequent	82
HP:0001270	HP:0031936	Delayed ability to walk	2	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	.	3
HP:0001270	HP:0025335	Delayed ability to stand	2	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0001270	HP:0031936	Delayed ability to walk	2	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0001270	HP:0031936	Delayed ability to walk	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0001270	HP:0031936	Delayed ability to walk	2	DPM3 CL E G H	54344	3007	OMIM:618992	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15		9
HP:0001270	HP:0025335	Delayed ability to stand	2	DPM3 CL E G H	54344	3007	OMIM:618992	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15		9
HP:0001270	HP:0031936	Delayed ability to walk	2	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001270	HP:0025336	Delayed ability to sit	2	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001270	HP:0031936	Delayed ability to walk	2	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	.	427
HP:0001270	HP:0031936	Delayed ability to walk	2	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies	.	1
HP:0001270	HP:0031936	Delayed ability to walk	2	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0001270	HP:0031936	Delayed ability to walk	2	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0001270	HP:0025336	Delayed ability to sit	2	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0001270	HP:0031936	Delayed ability to walk	2	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0001270	HP:0031936	Delayed ability to walk	2	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0001270	HP:0031936	Delayed ability to walk	2	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	.	18
HP:0001270	HP:0031936	Delayed ability to walk	2	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3		3
HP:0001270	HP:0025336	Delayed ability to sit	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0001270	HP:0031936	Delayed ability to walk	2	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD		7
HP:0001270	HP:0031936	Delayed ability to walk	2	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44		122
HP:0001270	HP:0031936	Delayed ability to walk	2	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	HP:0040282 - Frequent	12
HP:0001270	HP:0031936	Delayed ability to walk	2	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects	.
HP:0001270	HP:0031936	Delayed ability to walk	2	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.	7
HP:0001270	HP:0031936	Delayed ability to walk	2	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0001270	HP:0031936	Delayed ability to walk	2	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0001270	HP:0031936	Delayed ability to walk	2	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0001270	HP:0025336	Delayed ability to sit	2	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0001270	HP:0031936	Delayed ability to walk	2	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0001270	HP:0031936	Delayed ability to walk	2	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0001270	HP:0031936	Delayed ability to walk	2	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104		32
HP:0001270	HP:0031936	Delayed ability to walk	2	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	105
HP:0001270	HP:0025335	Delayed ability to stand	2	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040281 - Very frequent	407
HP:0001270	HP:0025336	Delayed ability to sit	2	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040281 - Very frequent	407
HP:0001270	HP:0031936	Delayed ability to walk	2	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0001270	HP:0025336	Delayed ability to sit	2	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0001270	HP:0031936	Delayed ability to walk	2	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0001270	HP:0031936	Delayed ability to walk	2	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0001270	HP:0031936	Delayed ability to walk	2	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0001270	HP:0025336	Delayed ability to sit	2	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0001270	HP:0031936	Delayed ability to walk	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0001270	HP:0031936	Delayed ability to walk	2	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	.
HP:0001270	HP:0025336	Delayed ability to sit	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:0001270	HP:0031936	Delayed ability to walk	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:0001270	HP:0031936	Delayed ability to walk	2	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040281 - Very frequent	108
HP:0001270	HP:0025336	Delayed ability to sit	2	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive		108
HP:0001270	HP:0025336	Delayed ability to sit	2	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27		274
HP:0001270	HP:0031936	Delayed ability to walk	2	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0001270	HP:0025336	Delayed ability to sit	2	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0001270	HP:0031936	Delayed ability to walk	2	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0001270	HP:0031936	Delayed ability to walk	2	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language	.	11
HP:0001270	HP:0031936	Delayed ability to walk	2	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38		38
HP:0001270	HP:0031936	Delayed ability to walk	2	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0001270	HP:0033128	Delayed ability to crawl	2	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0001270	HP:0025336	Delayed ability to sit	2	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0001270	HP:0031936	Delayed ability to walk	2	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0001270	HP:0025336	Delayed ability to sit	2	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0001270	HP:0031936	Delayed ability to walk	2	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040282 - Frequent	8
HP:0001270	HP:0031936	Delayed ability to walk	2	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040282 - Frequent	8
HP:0001270	HP:0031936	Delayed ability to walk	2	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0001270	HP:0031936	Delayed ability to walk	2	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0001270	HP:0031936	Delayed ability to walk	2	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0001270	HP:0025336	Delayed ability to sit	2	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0001270	HP:0031936	Delayed ability to walk	2	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0001270	HP:0031936	Delayed ability to walk	2	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0001270	HP:0025335	Delayed ability to stand	2	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome		177
HP:0001270	HP:0031936	Delayed ability to walk	2	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29		177
HP:0001270	HP:0031936	Delayed ability to walk	2	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0001270	HP:0031936	Delayed ability to walk	2	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0001270	HP:0025336	Delayed ability to sit	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0001270	HP:0031936	Delayed ability to walk	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0001270	HP:0031936	Delayed ability to walk	2	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0001270	HP:0031936	Delayed ability to walk	2	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0001270	HP:0031936	Delayed ability to walk	2	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.	2
HP:0001270	HP:0025335	Delayed ability to stand	2	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0001270	HP:0031936	Delayed ability to walk	2	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103		3
HP:0001270	HP:0031936	Delayed ability to walk	2	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.	1
HP:0001270	HP:0031936	Delayed ability to walk	2	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040282 - Frequent	13
HP:0001270	HP:0031936	Delayed ability to walk	2	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0001270	HP:0031936	Delayed ability to walk	2	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6		136
HP:0001270	HP:0025336	Delayed ability to sit	2	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6		136
HP:0001270	HP:0031936	Delayed ability to walk	2	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0001270	HP:0031936	Delayed ability to walk	2	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0001270	HP:0031936	Delayed ability to walk	2	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27		11
HP:0001270	HP:0031936	Delayed ability to walk	2	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0001270	HP:0031936	Delayed ability to walk	2	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4		2
HP:0001270	HP:0031936	Delayed ability to walk	2	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0001270	HP:0025336	Delayed ability to sit	2	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0001270	HP:0031936	Delayed ability to walk	2	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.	63
HP:0001270	HP:0031936	Delayed ability to walk	2	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0001270	HP:0025336	Delayed ability to sit	2	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0001270	HP:0031936	Delayed ability to walk	2	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57	.	5
HP:0001270	HP:0031936	Delayed ability to walk	2	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development		3
HP:0001270	HP:0025336	Delayed ability to sit	2	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51		4
HP:0001270	HP:0033128	Delayed ability to crawl	2	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51		4
HP:0001270	HP:0031936	Delayed ability to walk	2	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0001270	HP:0032989	Delayed ability to roll over	2	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0001270	HP:0025336	Delayed ability to sit	2	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0001270	HP:0031936	Delayed ability to walk	2	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0001270	HP:0025336	Delayed ability to sit	2	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0001270	HP:0031936	Delayed ability to walk	2	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0001270	HP:0025336	Delayed ability to sit	2	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0001270	HP:0031936	Delayed ability to walk	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0001270	HP:0031936	Delayed ability to walk	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0001270	HP:0031936	Delayed ability to walk	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0001270	HP:0025336	Delayed ability to sit	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0001270	HP:0025335	Delayed ability to stand	2	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2		134
HP:0001270	HP:0031936	Delayed ability to walk	2	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2	.	134
HP:0001270	HP:0031936	Delayed ability to walk	2	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0001270	HP:0031936	Delayed ability to walk	2	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38	.
HP:0001270	HP:0032989	Delayed ability to roll over	2	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0001270	HP:0031936	Delayed ability to walk	2	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0001270	HP:0033128	Delayed ability to crawl	2	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0001270	HP:0031936	Delayed ability to walk	2	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0001270	HP:0031936	Delayed ability to walk	2	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive	.	19
HP:0001270	HP:0031936	Delayed ability to walk	2	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	.
HP:0001270	HP:0031936	Delayed ability to walk	2	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39		13
HP:0001270	HP:0025336	Delayed ability to sit	2	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0001270	HP:0031936	Delayed ability to walk	2	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0001270	HP:0031936	Delayed ability to walk	2	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0001270	HP:0025336	Delayed ability to sit	2	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0001270	HP:0031936	Delayed ability to walk	2	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE		3
HP:0001270	HP:0031936	Delayed ability to walk	2	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.	2
HP:0001270	HP:0031936	Delayed ability to walk	2	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0001270	HP:0031936	Delayed ability to walk	2	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12	.	7
HP:0001270	HP:0031936	Delayed ability to walk	2	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23	.	7
HP:0001270	HP:0032989	Delayed ability to roll over	2	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0001270	HP:0025336	Delayed ability to sit	2	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0001270	HP:0031936	Delayed ability to walk	2	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72	.
HP:0001270	HP:0025336	Delayed ability to sit	2	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0001270	HP:0031936	Delayed ability to walk	2	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0001270	HP:0031936	Delayed ability to walk	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0001270	HP:0025336	Delayed ability to sit	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0001270	HP:0031936	Delayed ability to walk	2	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0001270	HP:0031936	Delayed ability to walk	2	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0001270	HP:0031936	Delayed ability to walk	2	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0001270	HP:0031936	Delayed ability to walk	2	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0001270	HP:0031936	Delayed ability to walk	2	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0001270	HP:0025336	Delayed ability to sit	2	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0001270	HP:0031936	Delayed ability to walk	2	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	.
HP:0001270	HP:0031936	Delayed ability to walk	2	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0001270	HP:0025336	Delayed ability to sit	2	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040282 - Frequent	231
HP:0001270	HP:0031936	Delayed ability to walk	2	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	.
HP:0001270	HP:0031936	Delayed ability to walk	2	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0001270	HP:0025336	Delayed ability to sit	2	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0001270	HP:0031936	Delayed ability to walk	2	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0001270	HP:0033128	Delayed ability to crawl	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0001270	HP:0025336	Delayed ability to sit	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0001270	HP:0031936	Delayed ability to walk	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0001270	HP:0032989	Delayed ability to roll over	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0001270	HP:0031936	Delayed ability to walk	2	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent	217
HP:0001270	HP:0025335	Delayed ability to stand	2	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent	217
HP:0001270	HP:0031936	Delayed ability to walk	2	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch	.	77
HP:0001270	HP:0031936	Delayed ability to walk	2	PIGC CL E G H	5279	8960	OMIM:617816	Glycosylphosphatidylinositol biosynthesis defect 16	.	1
HP:0001270	HP:0031936	Delayed ability to walk	2	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040282 - Frequent	7
HP:0001270	HP:0031936	Delayed ability to walk	2	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0001270	HP:0031936	Delayed ability to walk	2	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0001270	HP:0025336	Delayed ability to sit	2	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040282 - Frequent	60
HP:0001270	HP:0031936	Delayed ability to walk	2	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040281 - Very frequent	60
HP:0001270	HP:0031936	Delayed ability to walk	2	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040281 - Very frequent	7
HP:0001270	HP:0031936	Delayed ability to walk	2	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	HP:0040284 - Very rare	65
HP:0001270	HP:0031936	Delayed ability to walk	2	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11		38
HP:0001270	HP:0031936	Delayed ability to walk	2	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0001270	HP:0025336	Delayed ability to sit	2	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0001270	HP:0031936	Delayed ability to walk	2	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0001270	HP:0025336	Delayed ability to sit	2	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0001270	HP:0031936	Delayed ability to walk	2	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12		18
HP:0001270	HP:0031936	Delayed ability to walk	2	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.	2
HP:0001270	HP:0031936	Delayed ability to walk	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040281 - Very frequent	10
HP:0001270	HP:0031936	Delayed ability to walk	2	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35		10
HP:0001270	HP:0031936	Delayed ability to walk	2	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.	6
HP:0001270	HP:0031936	Delayed ability to walk	2	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	HP:0040284 - Very rare
HP:0001270	HP:0031936	Delayed ability to walk	2	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0001270	HP:0031936	Delayed ability to walk	2	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2		90
HP:0001270	HP:0031936	Delayed ability to walk	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0001270	HP:0025336	Delayed ability to sit	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0001270	HP:0031936	Delayed ability to walk	2	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040281 - Very frequent	150
HP:0001270	HP:0031936	Delayed ability to walk	2	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0001270	HP:0033128	Delayed ability to crawl	2	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0001270	HP:0031936	Delayed ability to walk	2	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0001270	HP:0025336	Delayed ability to sit	2	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0001270	HP:0031936	Delayed ability to walk	2	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7	.
HP:0001270	HP:0025336	Delayed ability to sit	2	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1		90
HP:0001270	HP:0031936	Delayed ability to walk	2	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA		1
HP:0001270	HP:0031936	Delayed ability to walk	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0001270	HP:0031936	Delayed ability to walk	2	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15		9
HP:0001270	HP:0031936	Delayed ability to walk	2	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0001270	HP:0031936	Delayed ability to walk	2	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0001270	HP:0031936	Delayed ability to walk	2	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0001270	HP:0031936	Delayed ability to walk	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001270	HP:0025336	Delayed ability to sit	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001270	HP:0025335	Delayed ability to stand	2	SCN2A CL E G H	6326	10588	OMIM:618924	EPISODIC ATAXIA, TYPE 9; EA9		427
HP:0001270	HP:0025336	Delayed ability to sit	2	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0001270	HP:0031936	Delayed ability to walk	2	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0001270	HP:0025335	Delayed ability to stand	2	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0001270	HP:0031936	Delayed ability to walk	2	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1		144
HP:0001270	HP:0031936	Delayed ability to walk	2	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0001270	HP:0031936	Delayed ability to walk	2	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58	.	1
HP:0001270	HP:0031936	Delayed ability to walk	2	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0001270	HP:0031936	Delayed ability to walk	2	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001270	HP:0031936	Delayed ability to walk	2	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0001270	HP:0031936	Delayed ability to walk	2	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	6
HP:0001270	HP:0025336	Delayed ability to sit	2	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0001270	HP:0031936	Delayed ability to walk	2	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES		2
HP:0001270	HP:0031936	Delayed ability to walk	2	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040282 - Frequent	57
HP:0001270	HP:0025336	Delayed ability to sit	2	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2		2
HP:0001270	HP:0031936	Delayed ability to walk	2	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2	.	2
HP:0001270	HP:0031936	Delayed ability to walk	2	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic	.	28
HP:0001270	HP:0032989	Delayed ability to roll over	2	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0001270	HP:0031936	Delayed ability to walk	2	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0001270	HP:0031936	Delayed ability to walk	2	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression	.	1
HP:0001270	HP:0031936	Delayed ability to walk	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001270	HP:0025336	Delayed ability to sit	2	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN		11
HP:0001270	HP:0031936	Delayed ability to walk	2	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	.	9
HP:0001270	HP:0031936	Delayed ability to walk	2	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108	.
HP:0001270	HP:0031936	Delayed ability to walk	2	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0001270	HP:0031936	Delayed ability to walk	2	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0001270	HP:0031936	Delayed ability to walk	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0001270	HP:0031936	Delayed ability to walk	2	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18		2
HP:0001270	HP:0031936	Delayed ability to walk	2	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent	37
HP:0001270	HP:0025336	Delayed ability to sit	2	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20		14
HP:0001270	HP:0033128	Delayed ability to crawl	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0001270	HP:0025336	Delayed ability to sit	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0001270	HP:0032989	Delayed ability to roll over	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0001270	HP:0031936	Delayed ability to walk	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0001270	HP:0031936	Delayed ability to walk	2	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	287
HP:0001270	HP:0031936	Delayed ability to walk	2	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0001270	HP:0031936	Delayed ability to walk	2	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0001270	HP:0031936	Delayed ability to walk	2	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	54
HP:0001270	HP:0031936	Delayed ability to walk	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0001270	HP:0031936	Delayed ability to walk	2	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.	1
HP:0001270	HP:0031936	Delayed ability to walk	2	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type		1129
HP:0001270	HP:0031936	Delayed ability to walk	2	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome	.	1
HP:0001270	HP:0025336	Delayed ability to sit	2	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0001270	HP:0032989	Delayed ability to roll over	2	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0001270	HP:0031936	Delayed ability to walk	2	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040282 - Frequent	12
HP:0001270	HP:0031936	Delayed ability to walk	2	TBR1 CL E G H	10716	11590	OMIM:606053	Intellectual developmental disorder with autism and speech delay	.	1
HP:0001270	HP:0031936	Delayed ability to walk	2	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.	1
HP:0001270	HP:0031936	Delayed ability to walk	2	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive		18
HP:0001270	HP:0031936	Delayed ability to walk	2	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040281 - Very frequent	1
HP:0001270	HP:0031936	Delayed ability to walk	2	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX	.	1
HP:0001270	HP:0031936	Delayed ability to walk	2	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0001270	HP:0031936	Delayed ability to walk	2	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0001270	HP:0031936	Delayed ability to walk	2	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0001270	HP:0031936	Delayed ability to walk	2	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0001270	HP:0031936	Delayed ability to walk	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1
HP:0001270	HP:0031936	Delayed ability to walk	2	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8	.	5
HP:0001270	HP:0031936	Delayed ability to walk	2	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	HP:0040284 - Very rare	71
HP:0001270	HP:0031936	Delayed ability to walk	2	TRAPPC10 CL E G H	7109	11868	OMIM:620027			1
HP:0001270	HP:0031936	Delayed ability to walk	2	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13	.	158
HP:0001270	HP:0031936	Delayed ability to walk	2	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R	.	3
HP:0001270	HP:0025336	Delayed ability to sit	2	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0001270	HP:0031936	Delayed ability to walk	2	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0001270	HP:0025336	Delayed ability to sit	2	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0001270	HP:0031936	Delayed ability to walk	2	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0001270	HP:0031936	Delayed ability to walk	2	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0001270	HP:0031936	Delayed ability to walk	2	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35		12
HP:0001270	HP:0031936	Delayed ability to walk	2	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68	.	1
HP:0001270	HP:0031936	Delayed ability to walk	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0001270	HP:0025335	Delayed ability to stand	2	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0001270	HP:0025336	Delayed ability to sit	2	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0001270	HP:0031936	Delayed ability to walk	2	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39		11
HP:0001270	HP:0025336	Delayed ability to sit	2	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent	64
HP:0001270	HP:0031936	Delayed ability to walk	2	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent	278
HP:0001270	HP:0025336	Delayed ability to sit	2	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0001270	HP:0025336	Delayed ability to sit	2	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0001270	HP:0032989	Delayed ability to roll over	2	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0001270	HP:0025336	Delayed ability to sit	2	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0001270	HP:0025336	Delayed ability to sit	2	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0001270	HP:0031936	Delayed ability to walk	2	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0001270	HP:0031936	Delayed ability to walk	2	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43		25
HP:0001270	HP:0031936	Delayed ability to walk	2	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040282 - Frequent	8
HP:0001270	HP:0025336	Delayed ability to sit	2	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040282 - Frequent	8
HP:0001270	HP:0031936	Delayed ability to walk	2	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.	8
HP:0001270	HP:0031936	Delayed ability to walk	2	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6	.
HP:0001270	HP:0031936	Delayed ability to walk	2	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14
HP:0001270	HP:0032989	Delayed ability to roll over	2	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0001270	HP:0031936	Delayed ability to walk	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040282 - Frequent	7
HP:0001270	HP:0031936	Delayed ability to walk	2	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69
HP:0001270	HP:0031936	Delayed ability to walk	2	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0001270	HP:0031936	Delayed ability to walk	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0001270	HP:0031936	Delayed ability to walk	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0001270	HP:0031936	Delayed ability to walk	2	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	.	4
HP:0001270	HP:0031936	Delayed ability to walk	2	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0001270	HP:0025335	Delayed ability to stand	2	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0001270	HP:0031936	Delayed ability to walk	2	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.	5

Genes (869) :AARS2 ABCA2 ABCC8 ACADSB ACAT1 ACBD5 ACP5 ACTA1 ACTB ACTN2 ADA ADA2 ADAMTS2 ADARB1 ADCY5 ADGRG1 ADGRL1 AEBP1 AGK AGO2 AGRN AGTPBP1 AHCY AHDC1 AHI1 AK9 ALDH18A1 ALDH5A1 ALDOA ALG12 ALG14 ALG2 ALMS1 ALS2 AMN AMPD2 ANAPC7 ANKRD17 ANTXR1 AP3B1 AP3B2 APC2 ARCN1 ARHGEF2 ARID1B ARID2 ARL13B ARPC4 ASAH1 ASPA ASPM ASXL3 ATG5 ATG7 ATL1 ATP10A ATP1A1 ATP1A3 ATP2A1 ATP2B3 ATP6AP2 ATP6V0A1 ATP6V0A2 ATP6V1A ATP6V1E1 ATXN7 AUH AUTS2 B3GALT6 B3GAT3 B4GALT7 BAP1 BCAS3 BCL11B BCOR BCORL1 BICD2 BIN1 BMP1 BMPR1A BPTF BRAT1 BRPF1 BSND CACNA1C CADM3 CAMK2A CAMK2B CANT1 CARS1 CASK CCDC134 CCDC78 CDC40 CDH11 CDH2 CDK13 CDK5 CDK8 CDKL5 CDKN1C CELF2 CFL2 CHAMP1 CHAT CHD3 CHD5 CHD7 CHD8 CHKA CHKB CHMP1A CHRNA1 CHRNB1 CHRND CHRNE CHST14 CHST3 CIB2 CIC CLCN3 CLCN6 CLCN7 CLCNKA CLCNKB CLDN11 CLP1 CLPB CNKSR2 CNOT1 CNOT2 CNOT3 CNTNAP2 COA8 COG1 COG4 COG5 COL12A1 COL13A1 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COPB1 COQ2 COQ7 COX1 COX10 COX2 COX3 CPE CPLX1 CPSF3 CRAT CRBN CREBBP CRPPA CSGALNACT1 CSNK2B CTBP1 CTDP1 CTNNB1 CUBN CUL3 CUL4B CWC27 CYP27B1 CYP2R1 CYP2U1 CYP3A4 DAG1 DARS1 DARS2 DCX DDOST DHPS DHX30 DLAT DLG3 DLK1 DMD DMXL2 DNAJC19 DNASE2 DNM1L DNM2 DOCK3 DOK7 DOLK DPAGT1 DPF2 DPH2 DPM3 DPYD DPYSL5 DSE DYM DYNC1H1 DYNC1I2 DYRK1A EBF3 EFEMP2 EGR2 EHMT1 EIF2AK1 EIF3F ELN ELOVL1 EN1 EP300 EPG5 EPRS1 ERLIN2 EXOC6B EXOSC2 EXOSC3 EXOSC8 EXOSC9 EXT2 EXTL3 FAR1 FARSB FASTKD2 FBLN1 FBLN5 FBN1 FBN2 FBXL3 FBXO11 FBXW11 FDX2 FDXR FGD4 FGF3 FGFR3 FIG4 FITM2 FKBP14 FKRP FKTN FLNA FLRT1 FLVCR1 FMR1 FNIP1 FOXG1 FOXP1 FRMD5 FRMPD4 FTSJ1 FUS FXR1 FZD4 GAA GABBR2 GABRA5 GALC GALE GALK1 GALNS GALNT2 GAN GARS1 GBA1 GBF1 GCK GDAP1 GEMIN4 GEMIN5 GFM1 GFPT1 GGPS1 GHR GJB1 GJC2 GLE1 GLRB GLS GMNN GMPPB GNAI1 GNB5 GNPTAB GPC3 GPC4 GPSM2 GRB10 GRIA1 GRIA3 GRIA4 GRIK2 GRIN1 GRIN2B GRM1 GTF2E2 GTPBP2 H19 H3-3A H4C5 HACD1 HADH HADHA HADHB HARS1 HDAC4 HECW2 HELLS HEPACAM HERC2 HGSNAT HIBCH HID1 HIVEP2 HK1 HMGA2 HNMT HNRNPK HOXA1 HPDL HPRT1 HS2ST1 HS6ST2 HSD17B4 HUWE1 HYCC1 IARS2 IDH1 IFT140 IFT52 IFT74 IGF1 IGF1R IGF2 IL1RN IL37 IL6ST INPP5E INPP5K INPPL1 INS IPO8 IPW IQSEC1 ITCH ITGA7 ITPR1 JAG1 KARS1 KAT6A KAT6B KAT8 KATNB1 KBTBD13 KCNA1 KCNA4 KCNC3 KCNJ11 KCNK4 KCNN2 KCNQ2 KDELR2 KDM1A KDM3B KDM4B KDM5B KDM5C KIAA0753 KIDINS220 KIF14 KIF7 KLC2 KLHL15 KLHL40 KLHL41 KMT2A KMT2B KMT2C KMT2E KPTN KY LAMA1 LAMA2 LAMB1 LAMB2 LARGE1 LARS1 LARS2 LBR LIAS LIG1 LINGO1 LINS1 LMBRD2 LMNA LMNB1 LMNB2 LMOD3 LMX1B LONP1 LRP4 LRP5 LRRC32 LSS LTBP1 LTBP4 LYRM4 MACF1 MADD MAGEL2 MAN1B1 MAN2B1 MAN2C1 MAOA MAP3K20 MAPK8IP3 MAPRE2 MARS1 MBD5 MBOAT7 MCEE MCM3AP MDH2 MECP2 MECR MED12 MED12L MED13 MED13L MED27 MEF2C MEG3 MEGF10 MEGF8 MESD MFF MFN2 MICOS13 MICU1 MID1 MINPP1 MKRN3 MKRN3-AS1 MKS1 MLC1 MLIP MMP13 MN1 MORC2 MPDZ MPV17 MPZ MRAS MRPS14 MRPS25 MSL3 MSTO1 MTM1 MTMR14 MTMR2 MTPAP MUSK MYF6 MYH3 MYH7 MYL1 MYL2 MYMK MYO18B MYO7A MYO9A MYOD1 MYPN MYRF MYT1L NAA10 NAA15 NAA20 NALCN NARS1 NBEA NCAPG2 NCDN ND1 ND4 ND5 ND6 NDP NDRG1 NDST1 NDUFA1 NDUFA12 NDUFA4 NDUFA8 NEB NEFL NEK1 NEPRO NEU1 NEUROD2 NEXMIF NFASC NFIX NGLY1 NHLRC2 NIPA1 NIPA2 NKX2-1 NKX3-2 NKX6-2 NMNAT1 NONO NOTCH3 NOVA2 NPAP1 NPHP1 NRAS NRCAM NSD1 NSRP1 NT5C2 NTNG1 NTNG2 NUBPL NUDT2 NUS1 ODC1 OGDH OPA1 OPHN1 ORC6 OTUD6B P4HTM PACS2 PAFAH1B1 PAK1 PAK3 PAX7 PBX1 PCBD1 PCDH15 PCDH19 PCYT2 PDE10A PDK3 PDX1 PET117 PGAP1 PGM1 PHEX PHKA2 PHKB PHKG2 PI4KA PIEZO2 PIGC PIGG PIGO PLAG1 PLEC PLOD1 PLP1 PLPBP PLXND1 PMP22 PMPCA PNKP PNP PNPLA2 POGZ POLR1C POLR1D POLR2A POLR3B POLR3GL POLR3K POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PPFIBP1 PPIL1 PPP2CA PPP2R1A PPP2R5D PRDM13 PREPL PRIM1 PRKRA PRMT7 PRPS1 PRR12 PRX PSMB1 PSMD12 PSMG2 PTCH1 PTCH2 PTEN PTH1R PTPRQ PTRH2 PTS PUM1 PURA PUS7 PWAR1 PWRN1 PYGL QRICH1 RAB11B RAB3GAP1 RAB3GAP2 RAC1 RAI1 RALA RALGAPA1 RAPSN RBL2 RBM8A RBPJ REPS1 REV3L RNF170 RNF220 RNU12 ROBO3 RORA RPL10 RPS23 RPS6KA3 RRAS2 RSPRY1 RSRC1 RTL1 RUBCN RUSC2 RYR1 SAMD9 SARDH SATB1 SBF2 SCN11A SCN1A SCN2A SCN4A SCN8A SCO2 SCYL1 SDHA SDHAF1 SDHB SDHD SELENOI SELENON SEMA6B SEPSECS SET SETBP1 SETD1A SETD5 SGMS2 SH2B1 SH3PXD2B SH3TC2 SHANK3 SHMT2 SHOC2 SIAH1 SIGMAR1 SIK3 SIM1 SIN3A SLC12A2 SLC12A6 SLC16A2 SLC18A2 SLC18A3 SLC1A3 SLC1A4 SLC25A1 SLC25A12 SLC25A42 SLC25A46 SLC37A4 SLC39A13 SLC39A8 SLC5A7 SLC6A3 SLC6A8 SLC9A1 SLC9A7 SMARCA2 SMARCAL1 SMARCD1 SMC1A SMPD1 SNAP25 SNORD115-1 SNORD116-1 SNRPN SNX14 SON SOX5 SP7 SPARC SPART SPEG SPEN SPG11 SPG21 SPOP SPR SPRED1 SPTBN1 SPTBN4 SPTLC1 SRCAP SRD5A3 STAC3 STAG2 STAT3 STT3A STXBP1 SUCLA2 SUCLG1 SUFU SUPT16H SURF1 SVBP SYNE1 SYNGAP1 SYT1 SYT2 TAF1 TAF8 TAFAZZIN TANC2 TANGO2 TAOK1 TBC1D24 TBR1 TCF20 TCF4 TENT5A TET3 TFG TGFB3 TH THG1L TIMM50 TK2 TKFC TLK2 TMCO1 TMEM106B TMEM107 TMEM147 TMEM222 TMEM38B TMEM63A TMEM63C TMEM94 TMTC3 TNFRSF11A TNFRSF11B TNNT1 TNPO3 TNR TNRC6B TOR1A TPM2 TPM3 TRAPPC10 TRAPPC6B TRAPPC9 TRIM2 TRIM8 TRIO TRIP11 TRIP12 TRIP4 TRIT1 TRMT1 TRMT10A TRMU TRNE TRNF TRNH TRNL1 TRNN TRNQ TRNS1 TRNS2 TRNT1 TRNW TRPV4 TRPV6 TRRAP TSEN15 TSEN2 TSEN34 TSEN54 TSHR TSPAN12 TSPOAP1 TTC5 TTI2 TTN TUBA1A TUBB TUBB2B TUBB3 TUBB4A TUBG1 UBA2 UBE2A UBE3A UBE3B UGDH UGP2 UNC80 UPB1 UQCRFS1 USH1C VAMP1 VARS1 VDR VMA21 VPS13B VPS13D VPS33A VPS35L VPS41 VPS4A VPS51 VRK1 WAC WASF1 WASHC4 WDR26 WDR4 WDR62 WDR73 WLS WWOX XYLT1 YARS1 YIF1B YY1 ZBTB11 ZBTB24 ZBTB7A ZC4H2 ZEB2 ZMIZ1 ZMYND11 ZNF148 ZNF407 ZNF408 ZNF592 ZNF711 ZSWIM6

Diseases (946) :OMIM:614096 OMIM:618808 OMIM:618857 ORPHA:99885 OMIM:610006 ORPHA:134 OMIM:618863 ORPHA:1855 ORPHA:171439 ORPHA:2020 ORPHA:171433 OMIM:161800 ORPHA:171430 OMIM:607371 OMIM:618654 OMIM:102700 ORPHA:820 OMIM:225410 OMIM:618862 OMIM:619647 OMIM:606703 ORPHA:324588 OMIM:619651 ORPHA:101070 OMIM:620065 ORPHA:536532 OMIM:212350 OMIM:619149 ORPHA:98913 ORPHA:98914 OMIM:618276 ORPHA:2254 OMIM:613752 ORPHA:412069 OMIM:615829 OMIM:608629 ORPHA:90348 ORPHA:447760 OMIM:271980 ORPHA:57 ORPHA:79324 ORPHA:353327 OMIM:607906 OMIM:616228 ORPHA:64 ORPHA:300605 OMIM:607225 ORPHA:35858 ORPHA:401805 OMIM:615686 OMIM:619699 OMIM:619504 OMIM:230740 OMIM:608233 OMIM:617276 OMIM:618677 OMIM:617164 OMIM:617523 OMIM:135900 OMIM:617808 OMIM:612291 OMIM:620141 OMIM:228000 ORPHA:314918 ORPHA:314911 OMIM:608716 OMIM:615485 OMIM:617584 OMIM:619422 ORPHA:100984 OMIM:182600 ORPHA:411515 ORPHA:564178 ORPHA:71517 OMIM:601003 OMIM:302500 ORPHA:314978 OMIM:300423 ORPHA:93952 OMIM:619970 ORPHA:357074 OMIM:219200 OMIM:617403 OMIM:618012 ORPHA:94147 OMIM:250950 OMIM:615834 ORPHA:536467 OMIM:245600 OMIM:130070 OMIM:619762 OMIM:619641 OMIM:618092 OMIM:309800 OMIM:300166 OMIM:301029 ORPHA:363454 OMIM:615290 OMIM:618291 ORPHA:169189 ORPHA:169186 OMIM:255200 OMIM:614856 ORPHA:79076 OMIM:617755 OMIM:618056 OMIM:617333 OMIM:602522 ORPHA:89938 OMIM:620029 OMIM:619519 OMIM:617798 OMIM:617799 OMIM:251450 OMIM:618891 OMIM:300749 OMIM:619795 OMIM:614807 OMIM:619302 OMIM:211380 OMIM:618929 OMIM:617360 OMIM:616342 OMIM:618748 ORPHA:3095 ORPHA:505652 ORPHA:397590 OMIM:619561 OMIM:610687 OMIM:616579 OMIM:618205 OMIM:619873 OMIM:214800 OMIM:615032 OMIM:620023 OMIM:602541 OMIM:614961 OMIM:608930 OMIM:616313 OMIM:616321 OMIM:616323 OMIM:608931 OMIM:601776 ORPHA:2953 ORPHA:263463 OMIM:143095 OMIM:614869 OMIM:617600 OMIM:619512 OMIM:619517 OMIM:619173 OMIM:618541 OMIM:613090 OMIM:619328 ORPHA:411493 ORPHA:445038 OMIM:301008 OMIM:619033 OMIM:618608 OMIM:618672 ORPHA:163681 OMIM:610042 ORPHA:436271 OMIM:611209 OMIM:618150 ORPHA:263487 OMIM:613612 OMIM:616471 ORPHA:536516 OMIM:616470 OMIM:616720 ORPHA:287 OMIM:130060 OMIM:617821 OMIM:156550 OMIM:151210 ORPHA:94068 OMIM:618343 OMIM:158810 OMIM:254090 OMIM:619255 OMIM:607426 OMIM:616733 ORPHA:550 OMIM:619046 OMIM:619326 OMIM:617976 ORPHA:352582 OMIM:619876 OMIM:617917 OMIM:607417 OMIM:618332 ORPHA:370980 OMIM:618870 OMIM:618732 OMIM:617915 OMIM:604168 ORPHA:891 OMIM:615075 ORPHA:404473 OMIM:619239 OMIM:300354 ORPHA:166035 OMIM:250410 ORPHA:289157 OMIM:264700 OMIM:615030 OMIM:619073 ORPHA:280333 ORPHA:370997 OMIM:615281 ORPHA:137898 OMIM:611105 OMIM:300067 OMIM:614507 OMIM:618480 OMIM:617804 ORPHA:79244 OMIM:245348 OMIM:300850 ORPHA:254534 ORPHA:96184 ORPHA:254531 ORPHA:254525 ORPHA:98896 OMIM:310200 OMIM:616113 ORPHA:66634 OMIM:619858 OMIM:614388 OMIM:160150 OMIM:618292 ORPHA:91131 OMIM:614750 OMIM:618027 OMIM:620062 OMIM:618992 OMIM:274270 OMIM:619435 OMIM:615539 ORPHA:239 OMIM:614228 OMIM:158600 OMIM:618492 ORPHA:464311 OMIM:617330 ORPHA:90349 OMIM:145900 OMIM:605253 ORPHA:261652 OMIM:618878 OMIM:618295 OMIM:618527 OMIM:619218 OMIM:618333 OMIM:613684 OMIM:242840 OMIM:617951 OMIM:611225 OMIM:618395 OMIM:617763 OMIM:616682 OMIM:617425 ORPHA:508533 OMIM:619338 OMIM:613658 OMIM:618855 ORPHA:404451 OMIM:616914 ORPHA:284979 OMIM:121050 OMIM:606220 OMIM:618089 OMIM:618914 OMIM:251900 ORPHA:543470 OMIM:609311 OMIM:610706 OMIM:100800 ORPHA:208441 OMIM:611228 OMIM:618635 OMIM:614557 ORPHA:300179 ORPHA:370968 ORPHA:34515 OMIM:613153 OMIM:606612 OMIM:613152 OMIM:611588 OMIM:309350 ORPHA:320406 OMIM:609033 ORPHA:88628 ORPHA:449291 OMIM:619705 OMIM:613454 ORPHA:391372 OMIM:613670 OMIM:620094 OMIM:300983 OMIM:309549 OMIM:618823 OMIM:618822 ORPHA:308552 OMIM:618559 ORPHA:206443 OMIM:230350 ORPHA:79237 OMIM:253000 OMIM:618885 OMIM:256850 OMIM:619042 OMIM:231000 ORPHA:2072 OMIM:606483 ORPHA:99944 ORPHA:101097 ORPHA:99948 OMIM:214400 OMIM:617913 OMIM:619333 OMIM:609060 OMIM:610542 OMIM:619518 ORPHA:633 OMIM:302800 ORPHA:1175 ORPHA:320401 OMIM:608804 OMIM:611890 OMIM:614619 OMIM:618412 OMIM:616835 OMIM:615351 OMIM:615352 OMIM:619854 OMIM:617182 OMIM:252500 ORPHA:576 OMIM:312870 OMIM:604213 ORPHA:96182 OMIM:619931 OMIM:619927 ORPHA:364028 OMIM:617864 OMIM:619580 ORPHA:208447 OMIM:617820 OMIM:616139 OMIM:617691 OMIM:616943 OMIM:617988 ORPHA:231144 ORPHA:231140 OMIM:619720 OMIM:619950 OMIM:619967 ORPHA:71212 ORPHA:746 OMIM:614504 OMIM:619797 OMIM:617268 OMIM:616911 OMIM:604004 OMIM:613925 OMIM:613926 OMIM:615516 OMIM:176270 OMIM:252930 ORPHA:88639 OMIM:619983 OMIM:616977 OMIM:618547 OMIM:616739 ORPHA:352665 ORPHA:453504 OMIM:601536 OMIM:619026 OMIM:300322 OMIM:619194 OMIM:301025 OMIM:233400 OMIM:309590 OMIM:610532 ORPHA:436174 OMIM:616007 ORPHA:99646 OMIM:266920 OMIM:617102 OMIM:619582 ORPHA:73272 OMIM:608747 ORPHA:73273 OMIM:270450 OMIM:616489 OMIM:612852 OMIM:619398 OMIM:619751 OMIM:213300 OMIM:617404 OMIM:258480 OMIM:619472 OMIM:618687 OMIM:613385 OMIM:613204 OMIM:206700 OMIM:117360 ORPHA:208513 OMIM:619574 OMIM:619196 OMIM:619147 OMIM:616268 OMIM:603736 OMIM:618974 OMIM:616212 ORPHA:37612 OMIM:618284 OMIM:605259 ORPHA:98768 OMIM:618381 OMIM:619725 OMIM:121200 OMIM:619131 OMIM:616728 ORPHA:477993 OMIM:618846 OMIM:619320 OMIM:618109 OMIM:300534 OMIM:619479 OMIM:617296 ORPHA:521390 OMIM:617914 OMIM:607131 OMIM:609541 OMIM:300982 OMIM:615731 ORPHA:319182 OMIM:617284 OMIM:618512 ORPHA:397612 OMIM:615637 ORPHA:496689 OMIM:615960 ORPHA:258 OMIM:607855 OMIM:618138 OMIM:615191 OMIM:609049 OMIM:608840 OMIM:615438 OMIM:615300 OMIM:618019 OMIM:614462 OMIM:619774 OMIM:618103 OMIM:614340 OMIM:619694 OMIM:613205 OMIM:619179 OMIM:619180 ORPHA:495818 OMIM:600373 OMIM:212780 ORPHA:2788 OMIM:619074 OMIM:618840 OMIM:615595 OMIM:618325 OMIM:619004 OMIM:619005 ORPHA:398069 OMIM:615547 OMIM:614202 ORPHA:309282 OMIM:619775 OMIM:300615 OMIM:617760 OMIM:618443 OMIM:616734 OMIM:615486 OMIM:156200 OMIM:617188 OMIM:251120 OMIM:618124 OMIM:617339 OMIM:300260 OMIM:300055 OMIM:617282 ORPHA:508093 OMIM:305450 OMIM:618872 OMIM:618009 ORPHA:369891 OMIM:616789 OMIM:619286 OMIM:613443 OMIM:614399 OMIM:614976 OMIM:618644 OMIM:617086 ORPHA:485421 OMIM:617087 OMIM:618329 OMIM:615673 ORPHA:2745 OMIM:619527 OMIM:249000 OMIM:620138 OMIM:250400 OMIM:618774 OMIM:616688 OMIM:619090 OMIM:615219 OMIM:256810 ORPHA:101082 OMIM:618184 OMIM:180800 OMIM:618499 OMIM:618378 OMIM:619025 OMIM:301032 ORPHA:502423 OMIM:617675 OMIM:310400 OMIM:601382 ORPHA:254343 OMIM:613672 OMIM:193700 ORPHA:324604 OMIM:618414 OMIM:254940 OMIM:616549 OMIM:276900 OMIM:618198 OMIM:618975 ORPHA:171881 OMIM:618280 OMIM:616521 ORPHA:276432 OMIM:617787 OMIM:619717 OMIM:616266 ORPHA:371364 OMIM:619091 OMIM:619092 OMIM:619157 OMIM:618460 OMIM:619373 ORPHA:99950 OMIM:616116 OMIM:301020 OMIM:618244 OMIM:619065 OMIM:619272 OMIM:256030 ORPHA:99939 ORPHA:101085 OMIM:607684 OMIM:607734 OMIM:617882 OMIM:263520 OMIM:618853 ORPHA:93399 OMIM:618374 OMIM:300912 OMIM:618356 ORPHA:447980 OMIM:602535 OMIM:614753 ORPHA:404454 OMIM:618278 ORPHA:261183 ORPHA:209905 OMIM:118700 OMIM:610978 OMIM:613330 OMIM:617560 OMIM:619260 ORPHA:466791 OMIM:300967 OMIM:130720 OMIM:618859 OMIM:609583 OMIM:613224 OMIM:619833 OMIM:117550 OMIM:620001 ORPHA:320396 OMIM:613162 OMIM:618718 OMIM:618242 OMIM:619844 OMIM:617831 OMIM:619075 OMIM:203740 OMIM:210000 OMIM:300486 OMIM:613803 OMIM:617452 OMIM:618493 OMIM:618067 ORPHA:95232 OMIM:618158 OMIM:300558 OMIM:618578 OMIM:617641 OMIM:264070 OMIM:602083 ORPHA:101039 OMIM:618770 OMIM:616921 ORPHA:494526 ORPHA:352675 OMIM:619063 OMIM:615802 OMIM:614921 ORPHA:89936 ORPHA:264580 OMIM:306000 ORPHA:79240 OMIM:613027 OMIM:619708 OMIM:617146 OMIM:617816 ORPHA:488635 OMIM:614749 OMIM:613723 ORPHA:254361 OMIM:225400 ORPHA:1900 ORPHA:280219 OMIM:617290 ORPHA:570 ORPHA:1170 OMIM:613402 OMIM:613179 OMIM:610717 ORPHA:98908 OMIM:616364 OMIM:616494 OMIM:613717 OMIM:618603 OMIM:619742 OMIM:619234 OMIM:619310 OMIM:613151 OMIM:613157 OMIM:618135 OMIM:616094 OMIM:609308 OMIM:613156 OMIM:613158 ORPHA:206559 ORPHA:95699 OMIM:620024 OMIM:619301 OMIM:618354 OMIM:616362 ORPHA:457279 OMIM:616355 OMIM:619909 OMIM:619761 OMIM:616224 OMIM:620005 ORPHA:210571 OMIM:612067 OMIM:617157 OMIM:311070 ORPHA:1187 OMIM:300661 OMIM:619539 OMIM:614895 OMIM:620038 OMIM:617516 OMIM:619183 OMIM:109400 ORPHA:109 OMIM:600002 OMIM:613391 ORPHA:456312 ORPHA:13 OMIM:617931 ORPHA:314655 OMIM:618342 ORPHA:369 OMIM:617982 OMIM:617807 OMIM:619420 OMIM:212720 ORPHA:500159 ORPHA:477817 OMIM:619311 OMIM:618797 OMIM:619690 OMIM:274000 OMIM:614814 OMIM:617916 OMIM:619686 OMIM:619688 ORPHA:512260 OMIM:607313 OMIM:618060 OMIM:300998 OMIM:617412 OMIM:300844 OMIM:618624 ORPHA:457395 OMIM:616723 OMIM:618402 ORPHA:404499 OMIM:615705 OMIM:617773 ORPHA:324581 OMIM:117000 ORPHA:597 ORPHA:98905 ORPHA:424107 OMIM:619542 OMIM:255320 ORPHA:178145 OMIM:617053 ORPHA:3129 OMIM:619228 OMIM:619229 ORPHA:99956 OMIM:615548 OMIM:607208 OMIM:618924 OMIM:614198 OMIM:614558 ORPHA:521411 OMIM:616719 ORPHA:3208 OMIM:619224 ORPHA:506353 OMIM:618768 OMIM:602771 OMIM:618876 ORPHA:2524 OMIM:618106 ORPHA:436151 OMIM:616078 OMIM:619056 ORPHA:404440 OMIM:615761 OMIM:126550 ORPHA:261197 OMIM:249420 OMIM:601596 OMIM:606232 OMIM:619121 OMIM:607721 OMIM:619314 OMIM:618162 ORPHA:398079 OMIM:613406 OMIM:619081 OMIM:619083 OMIM:620068 OMIM:218000 ORPHA:59 OMIM:618049 OMIM:612656 ORPHA:447997 OMIM:618197 OMIM:612949 OMIM:618416 OMIM:619525 ORPHA:79259 OMIM:612350 OMIM:616721 OMIM:617143 OMIM:613135 OMIM:300352 OMIM:616291 OMIM:301024 OMIM:619293 ORPHA:2728 OMIM:242900 OMIM:618779 OMIM:301044 ORPHA:77293 OMIM:616330 OMIM:105830 ORPHA:397709 OMIM:616354 OMIM:617140 ORPHA:313892 OMIM:613849 OMIM:616507 ORPHA:101000 OMIM:275900 OMIM:615959 OMIM:619312 OMIM:248900 OMIM:618828 OMIM:618829 ORPHA:70594 ORPHA:137605 OMIM:619475 OMIM:617519 OMIM:136140 OMIM:612379 OMIM:612713 OMIM:255995 ORPHA:168572 OMIM:301022 OMIM:619714 OMIM:612073 ORPHA:1933 OMIM:245400 OMIM:619480 OMIM:220110 OMIM:618569 OMIM:618484 ORPHA:88644 ORPHA:319332 OMIM:612621 OMIM:618218 ORPHA:522077 OMIM:616040 OMIM:300966 ORPHA:480907 OMIM:619972 OMIM:302060 OMIM:618906 ORPHA:480864 OMIM:619575 OMIM:606053 OMIM:618430 OMIM:610954 OMIM:617952 OMIM:618798 OMIM:615658 OMIM:615582 ORPHA:101150 OMIM:605407 OMIM:618800 ORPHA:505216 OMIM:617698 OMIM:609560 ORPHA:254875 OMIM:618805 OMIM:618050 OMIM:213980 OMIM:617964 OMIM:617563 OMIM:620075 OMIM:619470 OMIM:615066 OMIM:618688 OMIM:619966 OMIM:618316 OMIM:617255 OMIM:612301 OMIM:239000 ORPHA:98902 OMIM:605355 OMIM:608423 OMIM:619653 OMIM:619243 OMIM:128100 OMIM:609285 OMIM:609284 OMIM:620027 OMIM:617862 OMIM:613192 OMIM:615490 OMIM:619428 OMIM:618825 OMIM:617061 OMIM:184260 OMIM:617752 ORPHA:486815 OMIM:617066 OMIM:617873 OMIM:618302 OMIM:616033 ORPHA:254864 OMIM:616084 OMIM:181405 OMIM:618188 OMIM:618454 OMIM:617026 ORPHA:99819 ORPHA:424 OMIM:609152 OMIM:619244 OMIM:615541 OMIM:611705 OMIM:611603 OMIM:156610 OMIM:610031 ORPHA:300570 OMIM:612438 OMIM:619959 ORPHA:163956 OMIM:244450 OMIM:618792 OMIM:618744 OMIM:613161 OMIM:618775 OMIM:618323 OMIM:617802 OMIM:277440 OMIM:310440 OMIM:216550 OMIM:607317 OMIM:617303 OMIM:619135 OMIM:619389 OMIM:619273 OMIM:618606 OMIM:607596 ORPHA:284169 ORPHA:466950 OMIM:618707 OMIM:615817 ORPHA:513456 OMIM:617616 OMIM:618347 OMIM:604317 ORPHA:83472 OMIM:619648 ORPHA:284282 OMIM:615777 OMIM:619418 OMIM:619125 ORPHA:506358 OMIM:617557 OMIM:618383 OMIM:614069 OMIM:619769 OMIM:301041 OMIM:235730 ORPHA:261552 ORPHA:261537 OMIM:618659 OMIM:616083 OMIM:617260 OMIM:619557 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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