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:
Intellectual disability (HP:0001249)

..Starting node
..Intellectual disability, mild (HP:0001256)

Term ID:

1256

Name:

Intellectual disability, mild

Synonym:

Intellectual disability, mild; Mental retardation, borderline-mild; Mental retardation, mild; Mild and nonprogressive mental retardation; Mild mental retardation

Definition:

Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.

Comments:

Reference:

HP:0001256

Genes and Diseases:

Child Nodes:

Sister Nodes:

Intellectual disability, borderline (HP:0006889)

Intellectual disability, moderate (HP:0002342)

Intellectual disability, profound (HP:0002187)

Intellectual disability, progressive (HP:0006887)

Intellectual disability, severe (HP:0010864)

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:0001256	HP:0001256	Intellectual disability, mild	0	AASS CL E G H	10157	17366	OMIM:238700	Hyperlysinemia, type I	.	15
HP:0001256	HP:0001256	Intellectual disability, mild	0	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria	HP:0040283 - Occasional	15
HP:0001256	HP:0001256	Intellectual disability, mild	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:0001256	HP:0001256	Intellectual disability, mild	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0001256	HP:0001256	Intellectual disability, mild	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	254
HP:0001256	HP:0001256	Intellectual disability, mild	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040284 - Very rare	91
HP:0001256	HP:0001256	Intellectual disability, mild	0	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6	.	2
HP:0001256	HP:0001256	Intellectual disability, mild	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0001256	HP:0001256	Intellectual disability, mild	0	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset	.	72
HP:0001256	HP:0001256	Intellectual disability, mild	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	HP:0040284 - Very rare	49
HP:0001256	HP:0001256	Intellectual disability, mild	0	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional	63
HP:0001256	HP:0001256	Intellectual disability, mild	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1		63
HP:0001256	HP:0001256	Intellectual disability, mild	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	116
HP:0001256	HP:0001256	Intellectual disability, mild	0	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	HP:0040282 - Frequent	86
HP:0001256	HP:0001256	Intellectual disability, mild	0	AGL CL E G H	178	321	ORPHA:366	Glycogen storage disease due to glycogen debranching enzyme deficiency	HP:0040281 - Very frequent	216
HP:0001256	HP:0001256	Intellectual disability, mild	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6		54
HP:0001256	HP:0001256	Intellectual disability, mild	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional	62
HP:0001256	HP:0001256	Intellectual disability, mild	0	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG	HP:0040282 - Frequent	58
HP:0001256	HP:0001256	Intellectual disability, mild	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040281 - Very frequent	132
HP:0001256	HP:0001256	Intellectual disability, mild	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	HP:0040282 - Frequent	34
HP:0001256	HP:0001256	Intellectual disability, mild	0	ANK3 CL E G H	288	494	ORPHA:356996	ANK3-related intellectual disability-sleep disturbance syndrome	HP:0040283 - Occasional	176
HP:0001256	HP:0001256	Intellectual disability, mild	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040283 - Occasional	64
HP:0001256	HP:0001256	Intellectual disability, mild	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0001256	HP:0001256	Intellectual disability, mild	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent	3179
HP:0001256	HP:0001256	Intellectual disability, mild	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	1
HP:0001256	HP:0001256	Intellectual disability, mild	0	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040281 - Very frequent	219
HP:0001256	HP:0001256	Intellectual disability, mild	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0001256	HP:0001256	Intellectual disability, mild	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	1
HP:0001256	HP:0001256	Intellectual disability, mild	0	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome	HP:0040282 - Frequent	166
HP:0001256	HP:0001256	Intellectual disability, mild	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	HP:0040283 - Occasional	71
HP:0001256	HP:0001256	Intellectual disability, mild	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0001256	HP:0001256	Intellectual disability, mild	0	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease	.	86
HP:0001256	HP:0001256	Intellectual disability, mild	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0001256	HP:0001256	Intellectual disability, mild	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0001256	HP:0001256	Intellectual disability, mild	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.	25
HP:0001256	HP:0001256	Intellectual disability, mild	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0001256	HP:0001256	Intellectual disability, mild	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	99
HP:0001256	HP:0001256	Intellectual disability, mild	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	HP:0040283 - Occasional	99
HP:0001256	HP:0001256	Intellectual disability, mild	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	HP:0040283 - Occasional	314
HP:0001256	HP:0001256	Intellectual disability, mild	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	385
HP:0001256	HP:0001256	Intellectual disability, mild	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040281 - Very frequent	2
HP:0001256	HP:0001256	Intellectual disability, mild	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	276
HP:0001256	HP:0001256	Intellectual disability, mild	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040282 - Frequent	7
HP:0001256	HP:0001256	Intellectual disability, mild	0	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93		104
HP:0001256	HP:0001256	Intellectual disability, mild	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0001256	HP:0001256	Intellectual disability, mild	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.	13
HP:0001256	HP:0001256	Intellectual disability, mild	0	CA8 CL E G H	767	1382	OMIM:613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3	.	8
HP:0001256	HP:0001256	Intellectual disability, mild	0	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare	94
HP:0001256	HP:0001256	Intellectual disability, mild	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.	34
HP:0001256	HP:0001256	Intellectual disability, mild	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040281 - Very frequent	34
HP:0001256	HP:0001256	Intellectual disability, mild	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001256	HP:0001256	Intellectual disability, mild	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0001256	HP:0001256	Intellectual disability, mild	0	CDK6 CL E G H	1021	1777	OMIM:616080	Microcephaly 12, primary, autosomal recessive	.	6
HP:0001256	HP:0001256	Intellectual disability, mild	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	405
HP:0001256	HP:0001256	Intellectual disability, mild	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0001256	HP:0001256	Intellectual disability, mild	0	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare	188
HP:0001256	HP:0001256	Intellectual disability, mild	0	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare	225
HP:0001256	HP:0001256	Intellectual disability, mild	0	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome		52
HP:0001256	HP:0001256	Intellectual disability, mild	0	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare	88
HP:0001256	HP:0001256	Intellectual disability, mild	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	.	45
HP:0001256	HP:0001256	Intellectual disability, mild	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent	52
HP:0001256	HP:0001256	Intellectual disability, mild	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional	79
HP:0001256	HP:0001256	Intellectual disability, mild	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	6
HP:0001256	HP:0001256	Intellectual disability, mild	0	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional	1
HP:0001256	HP:0001256	Intellectual disability, mild	0	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2	.	19
HP:0001256	HP:0001256	Intellectual disability, mild	0	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare	1
HP:0001256	HP:0001256	Intellectual disability, mild	0	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)		51
HP:0001256	HP:0001256	Intellectual disability, mild	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040281 - Very frequent	17
HP:0001256	HP:0001256	Intellectual disability, mild	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	88
HP:0001256	HP:0001256	Intellectual disability, mild	0	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0001256	HP:0001256	Intellectual disability, mild	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17		9
HP:0001256	HP:0001256	Intellectual disability, mild	0	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	HP:0040283 - Occasional	108
HP:0001256	HP:0001256	Intellectual disability, mild	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0001256	HP:0001256	Intellectual disability, mild	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent	87
HP:0001256	HP:0001256	Intellectual disability, mild	0	DCC CL E G H	1630	2701	ORPHA:238722	Familial congenital mirror movements	HP:0040284 - Very rare	36
HP:0001256	HP:0001256	Intellectual disability, mild	0	DCC CL E G H	1630	2701	OMIM:157600	Mirror movements 1	HP:0040284 - Very rare	36
HP:0001256	HP:0001256	Intellectual disability, mild	0	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal		8
HP:0001256	HP:0001256	Intellectual disability, mild	0	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare	172
HP:0001256	HP:0001256	Intellectual disability, mild	0	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency	.	82
HP:0001256	HP:0001256	Intellectual disability, mild	0	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent	1
HP:0001256	HP:0001256	Intellectual disability, mild	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy	.	1496
HP:0001256	HP:0001256	Intellectual disability, mild	0	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient		3
HP:0001256	HP:0001256	Intellectual disability, mild	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0001256	HP:0001256	Intellectual disability, mild	0	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	HP:0040283 - Occasional	3
HP:0001256	HP:0001256	Intellectual disability, mild	0	DNAL4 CL E G H	10126	2955	ORPHA:238722	Familial congenital mirror movements	HP:0040284 - Very rare	2
HP:0001256	HP:0001256	Intellectual disability, mild	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional	44
HP:0001256	HP:0001256	Intellectual disability, mild	0	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities	HP:0040284 - Very rare	9
HP:0001256	HP:0001256	Intellectual disability, mild	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040281 - Very frequent	144
HP:0001256	HP:0001256	Intellectual disability, mild	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23		13
HP:0001256	HP:0001256	Intellectual disability, mild	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional	65
HP:0001256	HP:0001256	Intellectual disability, mild	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040284 - Very rare	134
HP:0001256	HP:0001256	Intellectual disability, mild	0	EDC3 CL E G H	80153	26114	OMIM:616460	Mental retardation, autosomal recessive 50	.	1
HP:0001256	HP:0001256	Intellectual disability, mild	0	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0001256	HP:0001256	Intellectual disability, mild	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	.	250
HP:0001256	HP:0001256	Intellectual disability, mild	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.	158
HP:0001256	HP:0001256	Intellectual disability, mild	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	199
HP:0001256	HP:0001256	Intellectual disability, mild	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	55
HP:0001256	HP:0001256	Intellectual disability, mild	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040281 - Very frequent	36
HP:0001256	HP:0001256	Intellectual disability, mild	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0001256	HP:0001256	Intellectual disability, mild	0	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040282 - Frequent	102
HP:0001256	HP:0001256	Intellectual disability, mild	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0001256	HP:0001256	Intellectual disability, mild	0	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2		114
HP:0001256	HP:0001256	Intellectual disability, mild	0	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional	1361
HP:0001256	HP:0001256	Intellectual disability, mild	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.	1361
HP:0001256	HP:0001256	Intellectual disability, mild	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0001256	HP:0001256	Intellectual disability, mild	0	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27	HP:0040283 - Occasional	47
HP:0001256	HP:0001256	Intellectual disability, mild	0	FGFR2 CL E G H	2263	3689	ORPHA:168624	Familial scaphocephaly syndrome, McGillivray type	HP:0040282 - Frequent	175
HP:0001256	HP:0001256	Intellectual disability, mild	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.	2
HP:0001256	HP:0001256	Intellectual disability, mild	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	157
HP:0001256	HP:0001256	Intellectual disability, mild	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome	.	332
HP:0001256	HP:0001256	Intellectual disability, mild	0	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant	.	493
HP:0001256	HP:0001256	Intellectual disability, mild	0	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1	HP:0040281 - Very frequent	493
HP:0001256	HP:0001256	Intellectual disability, mild	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0001256	HP:0001256	Intellectual disability, mild	0	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome	HP:0040281 - Very frequent	30
HP:0001256	HP:0001256	Intellectual disability, mild	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040283 - Occasional	184
HP:0001256	HP:0001256	Intellectual disability, mild	0	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0001256	HP:0001256	Intellectual disability, mild	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	109
HP:0001256	HP:0001256	Intellectual disability, mild	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	5
HP:0001256	HP:0001256	Intellectual disability, mild	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent	351
HP:0001256	HP:0001256	Intellectual disability, mild	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040281 - Very frequent	87
HP:0001256	HP:0001256	Intellectual disability, mild	0	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	HP:0040284 - Very rare	30
HP:0001256	HP:0001256	Intellectual disability, mild	0	GDI1 CL E G H	2664	4226	OMIM:300849	MENTAL RETARDATION, X-LINKED 41; MRX41		20
HP:0001256	HP:0001256	Intellectual disability, mild	0	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III	.	120
HP:0001256	HP:0001256	Intellectual disability, mild	0	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome	HP:0040283 - Occasional	270
HP:0001256	HP:0001256	Intellectual disability, mild	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0001256	HP:0001256	Intellectual disability, mild	0	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0001256	HP:0001256	Intellectual disability, mild	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	34
HP:0001256	HP:0001256	Intellectual disability, mild	0	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	HP:0040283 - Occasional	34
HP:0001256	HP:0001256	Intellectual disability, mild	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA		173
HP:0001256	HP:0001256	Intellectual disability, mild	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0001256	HP:0001256	Intellectual disability, mild	0	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma	.	57
HP:0001256	HP:0001256	Intellectual disability, mild	0	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica	HP:0040283 - Occasional	52
HP:0001256	HP:0001256	Intellectual disability, mild	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	8
HP:0001256	HP:0001256	Intellectual disability, mild	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0001256	HP:0001256	Intellectual disability, mild	0	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS		74
HP:0001256	HP:0001256	Intellectual disability, mild	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0001256	HP:0001256	Intellectual disability, mild	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional	108
HP:0001256	HP:0001256	Intellectual disability, mild	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional	30
HP:0001256	HP:0001256	Intellectual disability, mild	0	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia	HP:0040282 - Frequent	4
HP:0001256	HP:0001256	Intellectual disability, mild	0	HCN4 CL E G H	10021	16882	OMIM:619521	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18; EIG18		185
HP:0001256	HP:0001256	Intellectual disability, mild	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	.	2
HP:0001256	HP:0001256	Intellectual disability, mild	0	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	HP:0040282 - Frequent	2
HP:0001256	HP:0001256	Intellectual disability, mild	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001256	HP:0001256	Intellectual disability, mild	0	HEPACAM CL E G H	220296	26361	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	.	82
HP:0001256	HP:0001256	Intellectual disability, mild	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040284 - Very rare	12
HP:0001256	HP:0001256	Intellectual disability, mild	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	3
HP:0001256	HP:0001256	Intellectual disability, mild	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040281 - Very frequent	2
HP:0001256	HP:0001256	Intellectual disability, mild	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional	35
HP:0001256	HP:0001256	Intellectual disability, mild	0	HPD CL E G H	3242	5147	OMIM:276710	Tyrosinemia, type III	.	23
HP:0001256	HP:0001256	Intellectual disability, mild	0	HPRT1 CL E G H	3251	5157	ORPHA:510	Lesch-Nyhan syndrome	HP:0040281 - Very frequent	76
HP:0001256	HP:0001256	Intellectual disability, mild	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1		98
HP:0001256	HP:0001256	Intellectual disability, mild	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0001256	HP:0001256	Intellectual disability, mild	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040281 - Very frequent	91
HP:0001256	HP:0001256	Intellectual disability, mild	0	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia	HP:0040282 - Frequent	9
HP:0001256	HP:0001256	Intellectual disability, mild	0	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome	HP:0040282 - Frequent	111
HP:0001256	HP:0001256	Intellectual disability, mild	0	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29		177
HP:0001256	HP:0001256	Intellectual disability, mild	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	HP:0040283 - Occasional	257
HP:0001256	HP:0001256	Intellectual disability, mild	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0001256	HP:0001256	Intellectual disability, mild	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	2
HP:0001256	HP:0001256	Intellectual disability, mild	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent	283
HP:0001256	HP:0001256	Intellectual disability, mild	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent	283
HP:0001256	HP:0001256	Intellectual disability, mild	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040282 - Frequent	17
HP:0001256	HP:0001256	Intellectual disability, mild	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	23
HP:0001256	HP:0001256	Intellectual disability, mild	0	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia	HP:0040282 - Frequent	1
HP:0001256	HP:0001256	Intellectual disability, mild	0	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare	321
HP:0001256	HP:0001256	Intellectual disability, mild	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0001256	HP:0001256	Intellectual disability, mild	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.	46
HP:0001256	HP:0001256	Intellectual disability, mild	0	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040283 - Occasional	38
HP:0001256	HP:0001256	Intellectual disability, mild	0	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0001256	HP:0001256	Intellectual disability, mild	0	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset		11
HP:0001256	HP:0001256	Intellectual disability, mild	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0001256	HP:0001256	Intellectual disability, mild	0	L1CAM CL E G H	3897	6470	ORPHA:306617	X-linked complicated spastic paraplegia type 1	HP:0040282 - Frequent	134
HP:0001256	HP:0001256	Intellectual disability, mild	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040281 - Very frequent	68
HP:0001256	HP:0001256	Intellectual disability, mild	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	125
HP:0001256	HP:0001256	Intellectual disability, mild	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.	125
HP:0001256	HP:0001256	Intellectual disability, mild	0	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional	123
HP:0001256	HP:0001256	Intellectual disability, mild	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent	63
HP:0001256	HP:0001256	Intellectual disability, mild	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	63
HP:0001256	HP:0001256	Intellectual disability, mild	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional	63
HP:0001256	HP:0001256	Intellectual disability, mild	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional	63
HP:0001256	HP:0001256	Intellectual disability, mild	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040282 - Frequent	93
HP:0001256	HP:0001256	Intellectual disability, mild	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040281 - Very frequent	136
HP:0001256	HP:0001256	Intellectual disability, mild	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040282 - Frequent	136
HP:0001256	HP:0001256	Intellectual disability, mild	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	HP:0040283 - Occasional	11
HP:0001256	HP:0001256	Intellectual disability, mild	0	MARS1 CL E G H	4141	6898	ORPHA:401835	Autosomal recessive spastic paraplegia type 70	HP:0040282 - Frequent
HP:0001256	HP:0001256	Intellectual disability, mild	0	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy	HP:0040282 - Frequent	25
HP:0001256	HP:0001256	Intellectual disability, mild	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0001256	HP:0001256	Intellectual disability, mild	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development		3
HP:0001256	HP:0001256	Intellectual disability, mild	0	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2		4
HP:0001256	HP:0001256	Intellectual disability, mild	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	950
HP:0001256	HP:0001256	Intellectual disability, mild	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0001256	HP:0001256	Intellectual disability, mild	0	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent	1
HP:0001256	HP:0001256	Intellectual disability, mild	0	METTL23 CL E G H	124512	26988	OMIM:615942	Mental retardation, autosomal recessive 44		13
HP:0001256	HP:0001256	Intellectual disability, mild	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040282 - Frequent	33
HP:0001256	HP:0001256	Intellectual disability, mild	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0001256	HP:0001256	Intellectual disability, mild	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0001256	HP:0001256	Intellectual disability, mild	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0001256	HP:0001256	Intellectual disability, mild	0	MLC1 CL E G H	23209	17082	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	.	112
HP:0001256	HP:0001256	Intellectual disability, mild	0	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis	.	3
HP:0001256	HP:0001256	Intellectual disability, mild	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0001256	HP:0001256	Intellectual disability, mild	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0001256	HP:0001256	Intellectual disability, mild	0	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	.	5
HP:0001256	HP:0001256	Intellectual disability, mild	0	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0001256	HP:0001256	Intellectual disability, mild	0	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0001256	HP:0001256	Intellectual disability, mild	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1		35
HP:0001256	HP:0001256	Intellectual disability, mild	0	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2	HP:0040281 - Very frequent	47
HP:0001256	HP:0001256	Intellectual disability, mild	0	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease	.	47
HP:0001256	HP:0001256	Intellectual disability, mild	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	HP:0040283 - Occasional	34
HP:0001256	HP:0001256	Intellectual disability, mild	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0001256	HP:0001256	Intellectual disability, mild	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional
HP:0001256	HP:0001256	Intellectual disability, mild	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional
HP:0001256	HP:0001256	Intellectual disability, mild	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0001256	HP:0001256	Intellectual disability, mild	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I	.	1952
HP:0001256	HP:0001256	Intellectual disability, mild	0	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia	.	20
HP:0001256	HP:0001256	Intellectual disability, mild	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040283 - Occasional	40
HP:0001256	HP:0001256	Intellectual disability, mild	0	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	20
HP:0001256	HP:0001256	Intellectual disability, mild	0	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V	HP:0040283 - Occasional	20
HP:0001256	HP:0001256	Intellectual disability, mild	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional	51
HP:0001256	HP:0001256	Intellectual disability, mild	0	NLGN4X CL E G H	57502	14287	OMIM:300495	Autism, susceptibility to, X-linked 2		57
HP:0001256	HP:0001256	Intellectual disability, mild	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040282 - Frequent	10
HP:0001256	HP:0001256	Intellectual disability, mild	0	NR4A2 CL E G H	4929	7981	OMIM:619911			27
HP:0001256	HP:0001256	Intellectual disability, mild	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	544
HP:0001256	HP:0001256	Intellectual disability, mild	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	.	34
HP:0001256	HP:0001256	Intellectual disability, mild	0	NTN1 CL E G H	9423	8029	ORPHA:238722	Familial congenital mirror movements	HP:0040284 - Very rare
HP:0001256	HP:0001256	Intellectual disability, mild	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	1
HP:0001256	HP:0001256	Intellectual disability, mild	0	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	97
HP:0001256	HP:0001256	Intellectual disability, mild	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	7
HP:0001256	HP:0001256	Intellectual disability, mild	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	121
HP:0001256	HP:0001256	Intellectual disability, mild	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional	121
HP:0001256	HP:0001256	Intellectual disability, mild	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional	121
HP:0001256	HP:0001256	Intellectual disability, mild	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0001256	HP:0001256	Intellectual disability, mild	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040283 - Occasional	231
HP:0001256	HP:0001256	Intellectual disability, mild	0	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability	HP:0040283 - Occasional	225
HP:0001256	HP:0001256	Intellectual disability, mild	0	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome	HP:0040282 - Frequent	1
HP:0001256	HP:0001256	Intellectual disability, mild	0	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2	.	40
HP:0001256	HP:0001256	Intellectual disability, mild	0	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency	HP:0040282 - Frequent	75
HP:0001256	HP:0001256	Intellectual disability, mild	0	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B		4
HP:0001256	HP:0001256	Intellectual disability, mild	0	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67	HP:0040282 - Frequent	20
HP:0001256	HP:0001256	Intellectual disability, mild	0	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3	HP:0040283 - Occasional	8
HP:0001256	HP:0001256	Intellectual disability, mild	0	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome		23
HP:0001256	HP:0001256	Intellectual disability, mild	0	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type	HP:0040281 - Very frequent	23
HP:0001256	HP:0001256	Intellectual disability, mild	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	HP:0040284 - Very rare	77
HP:0001256	HP:0001256	Intellectual disability, mild	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5		162
HP:0001256	HP:0001256	Intellectual disability, mild	0	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30		1
HP:0001256	HP:0001256	Intellectual disability, mild	0	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040281 - Very frequent	60
HP:0001256	HP:0001256	Intellectual disability, mild	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked		60
HP:0001256	HP:0001256	Intellectual disability, mild	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040283 - Occasional	65
HP:0001256	HP:0001256	Intellectual disability, mild	0	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome		103
HP:0001256	HP:0001256	Intellectual disability, mild	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040282 - Frequent	35
HP:0001256	HP:0001256	Intellectual disability, mild	0	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type	HP:0040281 - Very frequent	2
HP:0001256	HP:0001256	Intellectual disability, mild	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent	138
HP:0001256	HP:0001256	Intellectual disability, mild	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	.	67
HP:0001256	HP:0001256	Intellectual disability, mild	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	180
HP:0001256	HP:0001256	Intellectual disability, mild	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	18
HP:0001256	HP:0001256	Intellectual disability, mild	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	213
HP:0001256	HP:0001256	Intellectual disability, mild	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	221
HP:0001256	HP:0001256	Intellectual disability, mild	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent	40
HP:0001256	HP:0001256	Intellectual disability, mild	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040281 - Very frequent
HP:0001256	HP:0001256	Intellectual disability, mild	0	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type	HP:0040281 - Very frequent	28
HP:0001256	HP:0001256	Intellectual disability, mild	0	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type	HP:0040283 - Occasional	28
HP:0001256	HP:0001256	Intellectual disability, mild	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040282 - Frequent	6
HP:0001256	HP:0001256	Intellectual disability, mild	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040282 - Frequent	49
HP:0001256	HP:0001256	Intellectual disability, mild	0	PRRT2 CL E G H	112476	30500	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040284 - Very rare	94
HP:0001256	HP:0001256	Intellectual disability, mild	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0001256	HP:0001256	Intellectual disability, mild	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040281 - Very frequent	4
HP:0001256	HP:0001256	Intellectual disability, mild	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0001256	HP:0001256	Intellectual disability, mild	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	948
HP:0001256	HP:0001256	Intellectual disability, mild	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0001256	HP:0001256	Intellectual disability, mild	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	291
HP:0001256	HP:0001256	Intellectual disability, mild	0	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica	HP:0040283 - Occasional	53
HP:0001256	HP:0001256	Intellectual disability, mild	0	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome		34
HP:0001256	HP:0001256	Intellectual disability, mild	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69	HP:0040282 - Frequent	135
HP:0001256	HP:0001256	Intellectual disability, mild	0	RAD51 CL E G H	5888	9817	ORPHA:238722	Familial congenital mirror movements	HP:0040284 - Very rare	9
HP:0001256	HP:0001256	Intellectual disability, mild	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	212
HP:0001256	HP:0001256	Intellectual disability, mild	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040281 - Very frequent	150
HP:0001256	HP:0001256	Intellectual disability, mild	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent
HP:0001256	HP:0001256	Intellectual disability, mild	0	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3		3
HP:0001256	HP:0001256	Intellectual disability, mild	0	RCBTB1 CL E G H	55213	18243	OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA		8
HP:0001256	HP:0001256	Intellectual disability, mild	0	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0001256	HP:0001256	Intellectual disability, mild	0	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS		15
HP:0001256	HP:0001256	Intellectual disability, mild	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0001256	HP:0001256	Intellectual disability, mild	0	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19		65
HP:0001256	HP:0001256	Intellectual disability, mild	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0001256	HP:0001256	Intellectual disability, mild	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0001256	HP:0001256	Intellectual disability, mild	0	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent
HP:0001256	HP:0001256	Intellectual disability, mild	0	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10		2
HP:0001256	HP:0001256	Intellectual disability, mild	0	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15		9
HP:0001256	HP:0001256	Intellectual disability, mild	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	1200
HP:0001256	HP:0001256	Intellectual disability, mild	0	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional	4
HP:0001256	HP:0001256	Intellectual disability, mild	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.	26
HP:0001256	HP:0001256	Intellectual disability, mild	0	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia		357
HP:0001256	HP:0001256	Intellectual disability, mild	0	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	HP:0040282 - Frequent	5
HP:0001256	HP:0001256	Intellectual disability, mild	0	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21	HP:0040283 - Occasional	5
HP:0001256	HP:0001256	Intellectual disability, mild	0	SDCCAG8 CL E G H	10806	10671	OMIM:613615	SENIOR-LOKEN SYNDROME 7; SLSN7		61
HP:0001256	HP:0001256	Intellectual disability, mild	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0001256	HP:0001256	Intellectual disability, mild	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040282 - Frequent
HP:0001256	HP:0001256	Intellectual disability, mild	0	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0001256	HP:0001256	Intellectual disability, mild	0	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome	HP:0040282 - Frequent	143
HP:0001256	HP:0001256	Intellectual disability, mild	0	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0001256	HP:0001256	Intellectual disability, mild	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	60
HP:0001256	HP:0001256	Intellectual disability, mild	0	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18	.	17
HP:0001256	HP:0001256	Intellectual disability, mild	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0001256	HP:0001256	Intellectual disability, mild	0	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor		67
HP:0001256	HP:0001256	Intellectual disability, mild	0	SIN3A CL E G H	25942	19353	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation	HP:0040281 - Very frequent	9
HP:0001256	HP:0001256	Intellectual disability, mild	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	.	9
HP:0001256	HP:0001256	Intellectual disability, mild	0	SIN3B CL E G H	23309	19354	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation	HP:0040281 - Very frequent
HP:0001256	HP:0001256	Intellectual disability, mild	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0001256	HP:0001256	Intellectual disability, mild	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0001256	HP:0001256	Intellectual disability, mild	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy		163
HP:0001256	HP:0001256	Intellectual disability, mild	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional	57
HP:0001256	HP:0001256	Intellectual disability, mild	0	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2		2
HP:0001256	HP:0001256	Intellectual disability, mild	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040283 - Occasional
HP:0001256	HP:0001256	Intellectual disability, mild	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0001256	HP:0001256	Intellectual disability, mild	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68
HP:0001256	HP:0001256	Intellectual disability, mild	0	SLC2A1 CL E G H	6513	11005	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040284 - Very rare	255
HP:0001256	HP:0001256	Intellectual disability, mild	0	SLC35A3 CL E G H	23443	11023	ORPHA:370943	Autism spectrum disorder-epilepsy-arthrogryposis syndrome	HP:0040282 - Frequent	2
HP:0001256	HP:0001256	Intellectual disability, mild	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent	146
HP:0001256	HP:0001256	Intellectual disability, mild	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	135
HP:0001256	HP:0001256	Intellectual disability, mild	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional	19
HP:0001256	HP:0001256	Intellectual disability, mild	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	37
HP:0001256	HP:0001256	Intellectual disability, mild	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional	37
HP:0001256	HP:0001256	Intellectual disability, mild	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional	37
HP:0001256	HP:0001256	Intellectual disability, mild	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040282 - Frequent	37
HP:0001256	HP:0001256	Intellectual disability, mild	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.	14
HP:0001256	HP:0001256	Intellectual disability, mild	0	SOX3 CL E G H	6658	11199	OMIM:300123	Mental retardation, X-linked, with isolated growth hormone deficiency	.	24
HP:0001256	HP:0001256	Intellectual disability, mild	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0001256	HP:0001256	Intellectual disability, mild	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	20
HP:0001256	HP:0001256	Intellectual disability, mild	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040281 - Very frequent	287
HP:0001256	HP:0001256	Intellectual disability, mild	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001256	HP:0001256	Intellectual disability, mild	0	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia	HP:0040282 - Frequent	126
HP:0001256	HP:0001256	Intellectual disability, mild	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040282 - Frequent	138
HP:0001256	HP:0001256	Intellectual disability, mild	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0001256	HP:0001256	Intellectual disability, mild	0	SRPX2 CL E G H	27286	30668	OMIM:300643	Rolandic epilepsy, mental retardation, and speech dyspraxia	.	50
HP:0001256	HP:0001256	Intellectual disability, mild	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0001256	HP:0001256	Intellectual disability, mild	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040284 - Very rare	14
HP:0001256	HP:0001256	Intellectual disability, mild	0	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32	.	124
HP:0001256	HP:0001256	Intellectual disability, mild	0	SYN1 CL E G H	6853	11494	OMIM:300115	Mental retardation, X-linked 50	.	58
HP:0001256	HP:0001256	Intellectual disability, mild	0	TAC3 CL E G H	6866	11521	OMIM:614839	Hypogonadotropic hypogonadism 10 with or without anosmia	HP:0040283 - Occasional	6
HP:0001256	HP:0001256	Intellectual disability, mild	0	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60	.	2
HP:0001256	HP:0001256	Intellectual disability, mild	0	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional	271
HP:0001256	HP:0001256	Intellectual disability, mild	0	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	HP:0040282 - Frequent
HP:0001256	HP:0001256	Intellectual disability, mild	0	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0001256	HP:0001256	Intellectual disability, mild	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	32
HP:0001256	HP:0001256	Intellectual disability, mild	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities		1
HP:0001256	HP:0001256	Intellectual disability, mild	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0001256	HP:0001256	Intellectual disability, mild	0	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome	.	104
HP:0001256	HP:0001256	Intellectual disability, mild	0	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040283 - Occasional	80
HP:0001256	HP:0001256	Intellectual disability, mild	0	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0001256	HP:0001256	Intellectual disability, mild	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040282 - Frequent	5
HP:0001256	HP:0001256	Intellectual disability, mild	0	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome		15
HP:0001256	HP:0001256	Intellectual disability, mild	0	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040282 - Frequent	4
HP:0001256	HP:0001256	Intellectual disability, mild	0	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0001256	HP:0001256	Intellectual disability, mild	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0001256	HP:0001256	Intellectual disability, mild	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040281 - Very frequent	8
HP:0001256	HP:0001256	Intellectual disability, mild	0	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040283 - Occasional
HP:0001256	HP:0001256	Intellectual disability, mild	0	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040283 - Occasional
HP:0001256	HP:0001256	Intellectual disability, mild	0	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040283 - Occasional
HP:0001256	HP:0001256	Intellectual disability, mild	0	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040283 - Occasional
HP:0001256	HP:0001256	Intellectual disability, mild	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0001256	HP:0001256	Intellectual disability, mild	0	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040283 - Occasional	2
HP:0001256	HP:0001256	Intellectual disability, mild	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	7128
HP:0001256	HP:0001256	Intellectual disability, mild	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040282 - Frequent	278
HP:0001256	HP:0001256	Intellectual disability, mild	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0001256	HP:0001256	Intellectual disability, mild	0	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14		33
HP:0001256	HP:0001256	Intellectual disability, mild	0	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4	HP:0040284 - Very rare
HP:0001256	HP:0001256	Intellectual disability, mild	0	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0001256	HP:0001256	Intellectual disability, mild	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0001256	HP:0001256	Intellectual disability, mild	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:0001256	HP:0001256	Intellectual disability, mild	0	WDFY3 CL E G H	23001	20751	OMIM:617520	Microcephaly 18, primary, autosomal dominant	.	6
HP:0001256	HP:0001256	Intellectual disability, mild	0	WDR48 CL E G H	57599	30914	ORPHA:401800	Autosomal recessive spastic paraplegia type 60	HP:0040282 - Frequent	1
HP:0001256	HP:0001256	Intellectual disability, mild	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040282 - Frequent	7
HP:0001256	HP:0001256	Intellectual disability, mild	0	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome	HP:0040281 - Very frequent	19
HP:0001256	HP:0001256	Intellectual disability, mild	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.	19
HP:0001256	HP:0001256	Intellectual disability, mild	0	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71	HP:0040282 - Frequent	1
HP:0001256	HP:0001256	Intellectual disability, mild	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001256	HP:0001256	Intellectual disability, mild	0	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30	.	24
HP:0001256	HP:0001256	Intellectual disability, mild	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	14
HP:0001256	HP:0001256	Intellectual disability, mild	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4

Genes (336) :AASS ABCA2 ABCC9 ACAT1 ACOX2 ACP5 ACTB ACVR1 ADAMTS10 ADAR AFG3L2 AGL AKT1 ALAD ALG1 ALX4 AMER1 ANK3 ANO10 AP3B1 APC APC2 ARID1B ARPC4 ARVCF ARX ATL1 ATP13A2 ATP2A2 ATP6 ATP6AP1 B4GALNT1 BCOR BIN1 BLM BMPR1A BPTF BRAF BRF1 BRWD3 BSCL2 C12ORF57 CA8 CABP4 CAMTA1 CARS1 CDH11 CDK6 CDKL5 CEP57 CHRNA2 CHRNA4 CHRNA7 CHRNB2 CLCN4 COG1 COG5 COMT CPLX1 CRBN CRH CSTB CTDP1 CTNNB1 CUL3 CWF19L1 DAG1 DARS1 DCAF17 DCC DCDC2 DEPDC5 DLAT DLK1 DMD DNAJC12 DNAJC21 DNAJC3 DNAL4 DNMT3A DONSON DPYD DSTYK DYM DYRK1A EDC3 EMC10 EP300 ERCC4 ERCC6 ERCC8 ERMARD EXOSC2 EXT2 EZH2 FAT4 FBN1 FGD1 FGF14 FGFR2 FIBP FKRP FLCN FLNA FMR1 FOXP1 FREM1 FZD4 GABBR2 GALT GATA4 GBA2 GDI1 GLB1 GLI3 GLRA2 GMPPB GNE GNPTG GORAB GP1BB GPAA1 GPSM2 GRIA3 GRIN1 GTPBP3 H19 HCN4 HDAC6 HEATR3 HEPACAM HINT1 HIRA HMGA2 HMGCL HPD HPRT1 HSD17B4 IFT140 IGF1 IGF2 INPP5E ITPR1 JAG1 JAG2 JMJD1C KANSL1 KCNC3 KCNJ8 KCNQ1OT1 KCNT1 KDM6A KIF11 KIF1C KLF13 KMT2B KMT2D L1CAM LEMD3 LRP5 LTBP2 MAGEL2 MAN1B1 MAN2B1 MAP3K7 MARS1 MARS2 MASP1 MCM3AP MECOM MECP2 MEG3 METTL23 MGP MIA3 MID1 MLC1 MSMO1 MSTO1 MTHFD1 MTRFR MTSS2 MYCN NAGA NARS2 NDN NDP NF1 NFE2L2 NFIX NGF NKX2-1 NLGN4X NONO NR4A2 NSD1 NSDHL NTN1 NTNG1 NTRK1 NUP62 OCA2 ORC1 PAFAH1B1 PCDH19 PCNA PDSS1 PEX10 PEX11B PGAP1 PGAP2 PHF8 PIEZO2 PIK3CA PITRM1 PLP1 PNPLA2 PNPLA6 POGZ POLA1 POLR3A POLR3B POMGNT1 POMK POMT1 POMT2 POU3F4 POU4F1 PQBP1 PRMT7 PRPS1 PRRT2 PSMB8 PSMD12 PTEN PTPN11 PYCR1 RAB39B RAB3GAP2 RAD51 RAF1 RAI1 RARS1 RBPJ RCBTB1 RNF135 RNU4ATAC RPS6KA3 RREB1 RSPRY1 RTL1 RTN4IP1 RUBCN RYR1 SARDH SBDS SCN8A SCYL1 SDCCAG8 SEC24C SELENOI SETBP1 SETD1B SETD2 SFXN4 SH2B1 SHH SIN3A SIN3B SKIC2 SKIC3 SLC12A6 SLC16A2 SLC18A2 SLC25A24 SLC25A4 SLC29A3 SLC2A1 SLC35A3 SMARCA2 SMC1A SMS SNRPN SOX11 SOX3 SPART SPEG SPG11 SPRED2 SPTBN2 SRCAP SRP54 SRPX2 SRY STAC3 SUFU SYN1 TAC3 TAF13 TBC1D24 TBC1D2B TBX1 TCF20 TFAP2A TFAP2B TH THG1L THOC2 TIMM8A TKT TMEM63C TRIM37 TRIO TRNL1 TRNL2 TRNN TRNS1 TSPAN12 TSPOAP1 TTN UBE3A UFD1 UPF3B VPS13D VPS16 VRK1 WAC WDFY3 WDR48 YY1 ZC4H2 ZFR ZMYM2 ZMYND11 ZNF408 ZNF462

Diseases (302) :OMIM:238700 ORPHA:3124 OMIM:618808 OMIM:239850 ORPHA:1517 ORPHA:134 OMIM:617308 OMIM:607944 OMIM:607371 OMIM:135100 ORPHA:3449 OMIM:277600 ORPHA:225154 ORPHA:313772 ORPHA:366 OMIM:615109 ORPHA:100924 ORPHA:79327 ORPHA:228390 OMIM:300373 ORPHA:356996 ORPHA:284289 OMIM:608233 ORPHA:261584 ORPHA:821 ORPHA:251056 OMIM:620141 ORPHA:567 ORPHA:94083 OMIM:182600 OMIM:606693 OMIM:124200 OMIM:300972 OMIM:609195 OMIM:300166 ORPHA:169186 OMIM:255200 OMIM:210900 ORPHA:79076 ORPHA:529962 ORPHA:500 ORPHA:444072 OMIM:300659 OMIM:269700 OMIM:218340 OMIM:613227 ORPHA:98784 OMIM:614756 ORPHA:314647 OMIM:618891 OMIM:211380 OMIM:616080 ORPHA:3095 OMIM:614114 OMIM:612001 OMIM:300114 ORPHA:263508 ORPHA:263487 ORPHA:352582 OMIM:607417 OMIM:254800 ORPHA:48431 ORPHA:891 OMIM:619239 OMIM:616127 ORPHA:280333 OMIM:615281 ORPHA:3464 ORPHA:238722 OMIM:157600 OMIM:617394 OMIM:245348 ORPHA:254534 OMIM:310200 OMIM:617384 OMIM:260400 ORPHA:445062 ORPHA:404443 OMIM:617604 ORPHA:293948 OMIM:270750 ORPHA:239 ORPHA:268261 OMIM:616460 OMIM:619264 OMIM:613684 OMIM:610965 ORPHA:90324 ORPHA:75857 OMIM:617763 ORPHA:466926 OMIM:277590 OMIM:616006 OMIM:608328 OMIM:305400 ORPHA:98764 ORPHA:168624 OMIM:617107 ORPHA:370959 OMIM:610883 OMIM:300049 ORPHA:90650 OMIM:311300 ORPHA:261483 ORPHA:391372 OMIM:608980 ORPHA:79239 ORPHA:251071 ORPHA:352641 OMIM:300849 OMIM:230650 ORPHA:380 OMIM:175700 OMIM:301076 OMIM:615352 OMIM:269921 ORPHA:3166 OMIM:252605 ORPHA:2078 ORPHA:529665 OMIM:604213 ORPHA:364028 ORPHA:208447 ORPHA:444013 ORPHA:2128 OMIM:619521 OMIM:300863 ORPHA:163966 OMIM:620072 OMIM:604004 ORPHA:324442 ORPHA:94063 ORPHA:20 OMIM:276710 ORPHA:510 OMIM:233400 OMIM:266920 ORPHA:73272 ORPHA:75858 OMIM:117360 OMIM:118450 OMIM:619566 ORPHA:363958 ORPHA:363965 ORPHA:98768 OMIM:147920 OMIM:152950 ORPHA:397946 OMIM:617284 ORPHA:306617 OMIM:259770 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 ORPHA:397941 ORPHA:309288 ORPHA:309282 OMIM:617137 ORPHA:401835 ORPHA:314603 OMIM:257920 OMIM:618124 OMIM:616738 OMIM:300055 OMIM:615942 ORPHA:85202 OMIM:245150 OMIM:619269 OMIM:300000 OMIM:616834 ORPHA:502423 OMIM:617675 OMIM:617780 ORPHA:320375 OMIM:620086 OMIM:164280 ORPHA:79280 OMIM:609242 OMIM:616239 OMIM:162200 OMIM:617744 ORPHA:420179 ORPHA:64752 OMIM:608654 ORPHA:209905 OMIM:300495 ORPHA:466791 OMIM:619911 OMIM:308050 OMIM:224690 ORPHA:95232 ORPHA:101039 ORPHA:438134 OMIM:614651 ORPHA:247815 OMIM:614920 ORPHA:401820 OMIM:614207 OMIM:300263 ORPHA:85287 OMIM:114300 OMIM:615108 OMIM:619405 ORPHA:280219 OMIM:312920 ORPHA:98908 OMIM:215470 ORPHA:468678 ORPHA:163976 ORPHA:447896 OMIM:614381 ORPHA:1435 ORPHA:93945 ORPHA:93950 ORPHA:464288 ORPHA:1187 ORPHA:98811 OMIM:256040 OMIM:158350 OMIM:151100 OMIM:311510 ORPHA:401830 ORPHA:1713 ORPHA:438114 OMIM:614814 OMIM:617175 ORPHA:137634 OMIM:226960 OMIM:616651 OMIM:300844 ORPHA:457395 OMIM:616732 OMIM:615705 ORPHA:3129 OMIM:614306 ORPHA:466794 OMIM:616719 OMIM:613615 ORPHA:506353 OMIM:618768 ORPHA:436151 OMIM:619000 OMIM:615578 ORPHA:261197 OMIM:147250 ORPHA:500166 OMIM:613406 ORPHA:84064 OMIM:218000 ORPHA:59 OMIM:618049 ORPHA:2095 OMIM:615418 ORPHA:168569 ORPHA:370943 ORPHA:2728 ORPHA:3063 ORPHA:177907 OMIM:615866 OMIM:300123 OMIM:275900 ORPHA:2822 OMIM:619745 ORPHA:352403 ORPHA:2044 OMIM:300643 ORPHA:1772 ORPHA:168572 OMIM:617757 OMIM:300115 OMIM:614839 OMIM:617432 ORPHA:397973 OMIM:619323 OMIM:618430 OMIM:113620 OMIM:169100 ORPHA:101150 OMIM:618800 ORPHA:457240 OMIM:304700 ORPHA:488618 OMIM:619966 OMIM:253250 ORPHA:476126 ORPHA:663 ORPHA:411511 OMIM:300676 OMIM:607317 OMIM:619291 OMIM:607596 ORPHA:466950 OMIM:617520 ORPHA:401800 ORPHA:506358 ORPHA:3454 OMIM:314580 ORPHA:401840 OMIM:619522 OMIM:616083 OMIM:618619

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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