ORPHA:101685

Rare non-syndromic intellectual disability

Synonyms: Rare NSID

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant, Autosomal recessive, X-linked dominant, X-linked recessive
Age of onset: Childhood, Infancy
Status: active

Rare non-syndromic intellectual disability is a rare, hereditary, neurologic disease characterized by early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Rare non-syndromic intellectual disability	Rare NSID
fr	Déficience intellectuelle non syndromique rare	NSID rare
de	Seltene nicht-syndromale Intelligenzminderung	Seltene NSID
es	Discapacidad intelectual rara no sindrómica
it	Disabilità intellettiva rara non sindromica	NSID rara
nl	Zeldzame niet-syndromale intellectuele achterstand	Zeldzame NSID
pt	Perturbação do desenvolvimento intelectual não-sindromática rara	NSID rara
pl	Rzadka niesyndromiczna niepełnosprawność intelektualna	Niesyndromiczna rzadka niepełnosprawność umysłowa
cs	Vzácná mentální retardace bez vývojové anomálie	Vzácný nesyndromický intelektuální deficit
uk	Рідкісна несиндромна інтелектуальна недостатність	Рідкісний NSID
zh	罕见非综合征性智力障碍	罕见NSID
tr	Nadir sendromik olmayan zihinsel yetersizlik	Nadir NSID

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	F70	BTNT	attributed	validated
ICD-10	F71	BTNT	attributed	validated
ICD-10	F72	BTNT	attributed	validated
ICD-10	F73	BTNT	attributed	validated
MONDO	0015108	E		validated
UMLS	C4751233	E		validated
GARD	19783	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98006Rare neurologic disease

Parents in the classifications (3):

ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases
ORPHA:183757Rare genetic intellectual disability
rare genetic diseases
ORPHA:87277Rare intellectual disability
rare neurological diseases

Children (3):

Genes

0 direct · 126 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

Gene	Subtype	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
KDM5B	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Candidate gene tested in	Not yet assessed	HGNC:18039	ENSG00000117139	605393	1q32.1	lysine demethylase 5B	24307393[PMID]
MED12	ORPHA:777X-linked non-syndromic intellectual disability	Candidate gene tested in	Not yet assessed	HGNC:11957	ENSG00000184634	300188	Xq13.1	mediator complex subunit 12
PTCHD1	ORPHA:777X-linked non-syndromic intellectual disability	Candidate gene tested in	Not yet assessed	HGNC:26392	ENSG00000165186	300828	Xp22.11	patched domain containing 1	20844286[PMID]_21091464[PMID]
AIMP1	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:10648	ENSG00000164022	603605	4q24	aminoacyl tRNA synthetase complex interacting multifunctional protein 1	26173967[PMID]
ALKBH8	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:25189	ENSG00000137760	613306	11q22.3	alkB homolog 8, tRNA methyltransferase	31079898[PMID]
BRSK2	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:11405	ENSG00000174672	609236	11p15.5	BR serine/threonine kinase 2	30879638[PMID]
CIC	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:14214	ENSG00000079432	612082	19q13.2	capicua transcriptional repressor	28288114[PMID]
CLIP1	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:10461	ENSG00000130779	179838	12q24.31	CAP-Gly domain containing linker protein 1	24569606[PMID]
CSNK2B	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:2460	ENSG00000204435	115441	6p21.33	casein kinase 2 beta	28585349[PMID]
EZR	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:12691	ENSG00000092820	123900	6q25.3	ezrin	25504542[PMID]
FBXO31	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:16510	ENSG00000103264	609102	16q24.2	F-box protein 31	24623383[PMID]
FTSJ1	ORPHA:777X-linked non-syndromic intellectual disability	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:13254	ENSG00000068438	300499	Xp11.23	FtsJ RNA 2'-O-methyltransferase 1	18081026[PMID]
GEMIN5	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:20043	ENSG00000082516	607005	5q33.2	gem nuclear organelle associated protein 5	33963192[PMID]
GRIK2	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:4580	ENSG00000164418	138244	6q16.3	glutamate ionotropic receptor kainate type subunit 2	17847003[PMID]
HIVEP2	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:4921	ENSG00000010818	143054	6q24.2	HIVEP zinc finger 2	26153216[PMID]_27003583[PMID]
IMPA1	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:6050	ENSG00000133731	602064	8q21.13	inositol monophosphatase 1	26416544[PMID]
MBOAT7	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:15505	ENSG00000125505	606048	19q13.42	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	27616480[PMID]
NAA20	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:15908	ENSG00000173418	610833	20p11.23	N-alpha-acetyltransferase 20, NatB catalytic subunit	34230638[PMID]
PGAP1	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:25712	ENSG00000197121	611655	2q33.1	post-GPI attachment to proteins inositol deacylase 1	24784135[PMID]
RAB39B	ORPHA:777X-linked non-syndromic intellectual disability	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:16499	ENSG00000155961	300774	Xq28	RAB39B, member RAS oncogene family	20159109[PMID]
TAOK1	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:29259	ENSG00000160551	610266	17q11.2	TAO kinase 1	31230721[PMID]
TNIK	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:30765	ENSG00000154310	610005	3q26.2-q26.31	TRAF2 and NCK interacting kinase	27106596[PMID]
TRAPPC9	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:30832	ENSG00000167632	611966	8q24.3	trafficking protein particle complex subunit 9	20004765[PMID]_20004763[PMID]_20004765[PMID]
TTC5	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:19274	ENSG00000136319	619014	14q11.2	tetratricopeptide repeat domain 5	32439809[PMID]
UBE4A	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:12499	ENSG00000110344	603753	11q23.3	ubiquitination factor E4A	33420346[PMID]
USP9X	ORPHA:777X-linked non-syndromic intellectual disability	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:12632	ENSG00000124486	300072	Xp11.4	ubiquitin specific peptidase 9 X-linked	24607389[PMID]
ABCA2	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:32	ENSG00000107331	600047	9q34.3	ATP binding cassette subfamily A member 2	29302074[PMID]
ACSL4	ORPHA:777X-linked non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:3571	ENSG00000068366	300157	Xq23	acyl-CoA synthetase long chain family member 4	11889465[PMID]
AGTR2	ORPHA:777X-linked non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:338	ENSG00000180772	300034	Xq23	angiotensin II receptor type 2	14598163[PMID]
ALG13	ORPHA:777X-linked non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:30881	ENSG00000101901	300776	Xq23	ALG13 UDP-N-acetylglucosaminyltransferase subunit	24501762[PMID]
ARF3	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:654	ENSG00000134287	103190	12q13.12	ARF GTPase 3	34346499[PMID]
ARHGEF6	ORPHA:777X-linked non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:685	ENSG00000129675	300267	Xq26.3	Rac/Cdc42 guanine nucleotide exchange factor 6	11017088[PMID]
ARX	ORPHA:777X-linked non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:18060	ENSG00000004848	300382	Xp21.3	aristaless related homeobox	15850492[PMID]
ASH1L	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:19088	ENSG00000116539	607999	1q22	ASH1 like histone lysine methyltransferase	23033978[PMID]_28394464[PMID]
B3GALNT2	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:28596	ENSG00000162885	610194	1q42.3	beta-1,3-N-acetylgalactosaminyltransferase 2	29273094[PMID]
CACNA1I	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:1396	ENSG00000100346	608230	22q13.1	calcium voltage-gated channel subunit alpha1 I	33704440[PMID]
CACNG2	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:1406	ENSG00000166862	602911	22q12.3	calcium voltage-gated channel auxiliary subunit gamma 2	21376300[PMID]
CAMK2A	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:1460	ENSG00000070808	114078	5q32	calcium/calmodulin dependent protein kinase II alpha	29100089[PMID]
CAMK2B	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:1461	ENSG00000058404	607707	7p13	calcium/calmodulin dependent protein kinase II beta	29100089[PMID]
CASK	ORPHA:777X-linked non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:1497	ENSG00000147044	300172	Xp11.4	calcium/calmodulin dependent serine protein kinase	25886057[PMID]_24278995[PMID]
CC2D1A	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:30237	ENSG00000132024	610055	19p13.12	coiled-coil and C2 domain containing 1A	16033914[PMID]
CDH15	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:1754	ENSG00000129910	114019	16q24.3	cadherin 15	19012874[PMID]
CEP104	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:24866	ENSG00000116198	616690	1p36.32	centrosomal protein 104	35359234[PMID]
CHKA	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:1937	ENSG00000110721	118491	11q13.2	choline kinase alpha	35202461[PMID]
CLCN4	ORPHA:777X-linked non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:2022	ENSG00000073464	302910	Xp22.2	Cl-/H+ antiporter 4	25644381[PMID]
CLTC	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:2092	ENSG00000141367	118955	17q23.1	clathrin heavy chain	29100083[PMID]
CNKSR2	ORPHA:777X-linked non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:19701	ENSG00000149970	300724	Xp22.12	connector enhancer of kinase suppressor of Ras 2	25644381[PMID]
CRADD	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:2340	ENSG00000169372	603454	12q22	CARD and death domain containing adaptor protein	22279524[PMID]
CRBN	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:30185	ENSG00000113851	609262	3p26.2	cereblon	15557513[PMID]
CTNND2	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:2516	ENSG00000169862	604275	5p15.2	catenin delta 2	33718894[PMID]
CUX1	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:2557	ENSG00000257923	116896	7q22.1	cut like homeobox 1	30014507[PMID]
DCPS	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:29812	ENSG00000110063	610534	11q24.2	decapping enzyme, scavenger	25701870[PMID]
DLG3	ORPHA:777X-linked non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:2902	ENSG00000082458	300189	Xq13.1	discs large MAGUK scaffold protein 3	15185169[PMID]
DLL1	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:2908	ENSG00000198719	606582	6q27	delta like canonical Notch ligand 1	31353024[PMID]
DMD	ORPHA:777X-linked non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:2928	ENSG00000198947	300377	Xp21.2-p21.1	dystrophin	23900271[PMID]
DOCK8	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:19191	ENSG00000107099	611432	9p24.3	dedicator of cytokinesis 8	18060736[PMID]
DPYSL2	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:3014	ENSG00000092964	602463	8p21.2	dihydropyrimidinase like 2	35861646[PMID]
DYNC1H1	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:2961	ENSG00000197102	600112	14q32.31	dynein cytoplasmic 1 heavy chain 1	22368300[PMID]
EDC3	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:26114	ENSG00000179151	609842	15q24.1	enhancer of mRNA decapping 3	25701870[PMID]
EEF1B2	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:3208	ENSG00000114942	600655	2q33.3	eukaryotic translation elongation factor 1 beta 2	35015920[PMID]
EPB41L1	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:3378	ENSG00000088367	602879	20q11.23	erythrocyte membrane protein band 4.1 like 1	21376300[PMID]
ERBB4	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:3432	ENSG00000178568	600543	2q34	erb-b2 receptor tyrosine kinase 4	33603162[PMID]
FERRY3	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:1184	ENSG00000047621	616082	12p13.32	FERRY endosomal RAB5 effector complex subunit 3	27311568[PMID]
FMN2	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:14074	ENSG00000155816	606373	1q43	formin 2	25480035[PMID]
FRMPD4	ORPHA:777X-linked non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:29007	ENSG00000169933	300838	Xp22.2	FERM and PDZ domain containing 4	25644381[PMID]
FRRS1L	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:1362	ENSG00000260230	604574	9q31.3	ferric chelate reductase 1 like	28675162[PMID]
GABBR1	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:4070	ENSG00000204681	603540	6p22.1	gamma-aminobutyric acid type B receptor subunit 1	36103875[PMID]
GDI1	ORPHA:777X-linked non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:4226	ENSG00000203879	300104	Xq28	GDP dissociation inhibitor 1	22002931[PMID]
GRIA1	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:4571	ENSG00000155511	138248	5q33.2	glutamate ionotropic receptor AMPA type subunit 1	35675825[PMID]
GRIA1	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:4571	ENSG00000155511	138248	5q33.2	glutamate ionotropic receptor AMPA type subunit 1	28628100[PMID]
GRIN1	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:4584	ENSG00000176884	138249	9q34.3	glutamate ionotropic receptor NMDA type subunit 1	28051072[PMID]
GRIN1	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:4584	ENSG00000176884	138249	9q34.3	glutamate ionotropic receptor NMDA type subunit 1	21376300[PMID]
GRM7	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:4599	ENSG00000196277	604101	3p26.1	glutamate metabotropic receptor 7	27435318[PMID]
HCFC1	ORPHA:777X-linked non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:4839	ENSG00000172534	300019	Xq28	host cell factor C1	23000143[PMID]
HNMT	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:5028	ENSG00000150540	605238	2q22.1	histamine N-methyltransferase	26206890[PMID]
IL1RAPL1	ORPHA:777X-linked non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:5996	ENSG00000169306	300206	Xp21.3-p21.2	interleukin 1 receptor accessory protein like 1	16470793[PMID]_19012350[PMID]
IQSEC1	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:29112	ENSG00000144711	610166	3p25.2	IQ motif and Sec7 domain ArfGEF 1	31607425[PMID]
ITSN1	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:6183	ENSG00000205726	602442	21q22.11	intersectin 1	34707297[PMID]
KCNQ2	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:6296	ENSG00000075043	602235	20q13.33	potassium voltage-gated channel subfamily Q member 2	33754465[PMID]
KCNQ5	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:6299	ENSG00000185760	607357	6q13	potassium voltage-gated channel subfamily Q member 5	28669405[PMID]
KDM5B	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:18039	ENSG00000117139	605393	1q32.1	lysine demethylase 5B	29276005[PMID]
KIRREL3	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:23204	ENSG00000149571	607761	11q24.2	kirre like nephrin family adhesion molecule 3	19012874[PMID]
LINS1	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:30922	ENSG00000140471	610350	15q26.3	lines homolog 1	23773660[PMID]
LMAN2L	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:19263	ENSG00000114988	609552	2q11.2	lectin, mannose binding 2 like	26566883[PMID]
MAN1B1	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:6823	ENSG00000177239	604346	9q34.3	mannosidase alpha class 1B member 1	21763484[PMID]
MBD5	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:20444	ENSG00000204406	611472	2q23.1	methyl-CpG binding domain protein 5	23422940[PMID]
MECP2	ORPHA:777X-linked non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:6990	ENSG00000169057	300005	Xq28	methyl-CpG binding protein 2	11309367[PMID]
MED23	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:2372	ENSG00000112282	605042	6q23.2	mediator complex subunit 23	21868677[PMID]
MED25	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:28845	ENSG00000104973	610197	19q13.33	mediator complex subunit 25	25527630[PMID]
METTL23	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:26988	ENSG00000181038	615262	17q25.2	methyltransferase 23, arginine	24626631[PMID]
MID2	ORPHA:777X-linked non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:7096	ENSG00000080561	300204	Xq22.3	midline 2	24115387[PMID]
NBEA	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:7648	ENSG00000172915	604889	13q13.3	neurobeachin	30269351[PMID]
NCDN	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:17597	ENSG00000020129	608458	1p34.3	neurochondrin	33711248[PMID]
NDST1	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:7680	ENSG00000070614	600853	5q33.1	N-deacetylase and N-sulfotransferase 1	25125150[PMID]
NEMF	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:10663	ENSG00000165525	608378	14q21.3	nuclear export mediator factor	32934225[PMID]
NSUN2	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:25994	ENSG00000037474	610916	5p15.31	NOP2/Sun RNA methyltransferase 2	22541559[PMID]_22541562[PMID]
PIGC	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:8960	ENSG00000135845	601730	1q24.3	phosphatidylinositol glycan anchor biosynthesis class C	27694521[PMID]
PRICKLE2	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:20340	ENSG00000163637	608501	3p14.1	prickle planar cell polarity protein 2	34092786[PMID]
PRSS12	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:9477	ENSG00000164099	606709	4q26	serine protease 12	12459588[PMID]
RAB11A	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:9760	ENSG00000103769	605570	15q22.31	RAB11A, member RAS oncogene family	29100083[PMID]
RPS6KA3	ORPHA:777X-linked non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:10432	ENSG00000177189	300075	Xp22.12	ribosomal protein S6 kinase A3	17100996[PMID]
RSRC1	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:24152	ENSG00000174891	613352	3q25.32	arginine and serine rich coiled-coil 1	28640246[PMID]_29522154[PMID]
SARS1	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:10537	ENSG00000031698	607529	1p13.3	seryl-tRNA synthetase 1	28236339[PMID]
SCN2A	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:10588	ENSG00000136531	182390	2q24.3	sodium voltage-gated channel alpha subunit 2	31904126[PMID]_38651838[PMID]
SCN8A	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:10596	ENSG00000196876	600702	12q13.13	sodium voltage-gated channel alpha subunit 8	16236810[PMID]
SEMA6B	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:10739	ENSG00000167680	608873	19p13.3	semaphorin 6B	35604360[PMID]
SET	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:10760	ENSG00000119335	600960	9q34.11	SET nuclear proto-oncogene	29688601[PMID]
SETD1B	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:29187	ENSG00000139718	611055	12q24.31	SET domain containing 1B, histone lysine methyltransferase	32546566[PMID]
SLC45A1	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:17939	ENSG00000162426	605763	1p36.23	solute carrier family 45 member 1	28434495[PMID]
SLC6A1	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:11042	ENSG00000157103	137165	3p25.3	solute carrier family 6 member 1	34006619[PMID]
SLC9A7	ORPHA:777X-linked non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:17123	ENSG00000065923	300368	Xp11.3	solute carrier family 9 member A7	30335141[PMID]
STEEP1	ORPHA:777X-linked non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:26239	ENSG00000018610	301012	Xq24	STING1 ER exit protein 1	29374277[PMID]
SYP	ORPHA:777X-linked non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:11506	ENSG00000102003	313475	Xp11.23	synaptophysin	19377476[PMID]
TCF4	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:11634	ENSG00000196628	602272	18q21.2	transcription factor 4	22670824[PMID]
TECR	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:4551	ENSG00000099797	610057	19p13.12	trans-2,3-enoyl-CoA reductase	21212097[PMID]
TPR	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:12017	ENSG00000047410	189940	1q31.1	translocated promoter region, nuclear basket protein	34494102[PMID]
TRPM3	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:17992	ENSG00000083067	608961	9q21.12-q21.13	transient receptor potential cation channel subfamily M member 3	31278393[PMID]
TSPAN7	ORPHA:777X-linked non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:11854	ENSG00000156298	300096	Xp11.4	tetraspanin 7	10655063[PMID]_12070254[PMID]
TUSC3	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:30242	ENSG00000104723	601385	8p22	tumor suppressor candidate 3	21739581[PMID]
UPF3B	ORPHA:777X-linked non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:20439	ENSG00000125351	300298	Xq24	UPF3B regulator of nonsense mediated mRNA decay	17704778[PMID]_19238151[PMID]
USP27X	ORPHA:777X-linked non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:13486	ENSG00000273820	300975	Xp11.23	ubiquitin specific peptidase 27 X-linked	25644381[PMID]
WASHC4	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:29174	ENSG00000136051	615748	12q23.3	WASH complex subunit 4	21498477[PMID]
YWHAZ	ORPHA:178469Autosomal dominant non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:12855	ENSG00000164924	601288	8q22.3	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta	36001342[PMID]
ZC3H14	ORPHA:88616Autosomal recessive non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:20509	ENSG00000100722	613279	14q31.3	zinc finger CCCH-type containing 14	21734151[PMID]
ZNF711	ORPHA:777X-linked non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:13128	ENSG00000147180	314990	Xq21.1	ZFX family zinc finger ZNF711	19377476[PMID]
ZNF81	ORPHA:777X-linked non-syndromic intellectual disability	Disease-causing germline mutation(s) in	Assessed	HGNC:13156	ENSG00000197779	314998	Xp11.23	zinc finger protein 81	15121780[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Validated	ORPHANET
Annual incidence	Unknown	—	Worldwide	Class only	Validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/101685
This record as JSON: /data/d/101685.json