Genes associated with “intellectual disability”
How are genes scored? (0–100 composite)
Strong Candidates
89 genespogo transposable element derived with ZNF domain
mediator complex subunit 13L
AT-hook DNA binding motif containing 1
DEAD-box helicase 3 X-linked
lysine acetyltransferase 6A
intellectual disability, autosomal dominant 9
X-linked intellectual disability-cerebellar hypoplasia syndrome
FG syndrome 4
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
CCCTC-binding factor
intellectual disability, X-linked 19
Marshall-Smith syndrome
intellectual disability, X-linked 1
solute carrier family 6 member 8
lysine methyltransferase 2C
myelin transcription factor 1 like
Kabuki syndrome 1
intellectual disability, autosomal dominant 46
developmental delay with or without intellectual impairment or behavioral abnormalities
purine rich element binding protein A
FRAXE intellectual disability
Pierpont syndrome
Weaver syndrome
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
transcription factor 20
synaptic Ras GTPase activating protein 1
autism spectrum disorder due to AUTS2 deficiency
syndromic X-linked intellectual disability Siderius type
early-onset parkinsonism-intellectual disability syndrome
Okur-Chung neurodevelopmental syndrome
p53-induced death domain protein 1
BCL11 transcription factor A
intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
heterogeneous nuclear ribonucleoprotein U
intellectual developmental disorder with autism and macrocephaly
KAT8 regulatory NSL complex subunit 1
capicua transcriptional repressor
solute carrier family 2 member 1
mucopolysaccharidosis type 7
glutamine rich 1
protein phosphatase 2 scaffold subunit Aalpha
LEOPARD syndrome 1
early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
cardiofaciocutaneous syndrome 1
gamma-aminobutyric acid type A receptor subunit beta2
autosomal recessive complex spastic paraplegia type 9B
intellectual disability, X-linked 30
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
arginase deficiency
WAGR syndrome
macrocephaly-autism syndrome
calcium/calmodulin dependent protein kinase II alpha
mitogen-activated protein kinase 1
Lesch-Nyhan syndrome
Angelman syndrome
Joubert syndrome 7
severe achondroplasia-developmental delay-acanthosis nigricans syndrome
neurobeachin
ASH1 like histone lysine methyltransferase
Consider
205 genessyntaxin binding protein 1
zinc finger MYND-type containing 11
lysine methyltransferase 2E (inactive)
hypogonadotropic hypogonadism 2 with or without anosmia
Myhre syndrome
protein phosphatase 2 regulatory subunit B'delta
calcium/calmodulin dependent protein kinase II beta
Williams syndrome
Crouzon syndrome
Coffin-Siris syndrome 1
Saethre-Chotzen syndrome
Noonan syndrome 6
megalencephaly-capillary malformation-polymicrogyria syndrome
phosphofurin acidic cluster sorting protein 1
tubulin alpha 1a
YY1 transcription factor
neurodevelopmental disorder with language impairment and behavioral abnormalities
POU class 3 homeobox 3
RAS like proto-oncogene A
potassium voltage-gated channel subfamily H member 1
mitochondrial complex I deficiency, nuclear type 13
Schinzel-Giedion syndrome
Mowat-Wilson syndrome
intellectual disability, X-linked 41
polycomb group ring finger 2
hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Christianson syndrome
ARF guanine nucleotide exchange factor 1
CEBALID syndrome
rhizomelic chondrodysplasia punctata type 1
potassium calcium-activated channel subfamily N member 2
vesicle associated membrane protein 2
ARF GTPase 3
lysine demethylase 5A
hypotonia, infantile, with psychomotor retardation and characteristic facies 3
cognitive impairment with or without cerebellar ataxia
post-GPI attachment to proteins 2
neurodevelopmental disorder with severe motor impairment and absent language
chromodomain helicase DNA binding protein 5
syntaxin 1A
ubiquitin specific peptidase 27 X-linked
Nijmegen breakage syndrome
hereditary spastic paraplegia 51
developmental and epileptic encephalopathy, 64
glutathione synthetase deficiency with 5-oxoprolinuria
bone marrow failure syndrome 5
heterotopia, periventricular, X-linked dominant
structural brain anomalies with impaired intellectual development and craniosynostosis
Bardet-Biedl syndrome 3
Joubert syndrome 15
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
intellectual developmental disorder with autism and speech delay
intellectual disability, autosomal dominant 40
ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 1; APMR1
Alopecia-intellectual disability syndrome 2
Alopecia-intellectual disability syndrome 3
ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4
CLEFT PALATE, CARDIAC DEFECTS, AND IMPAIRED INTELLECTUAL DEVELOPMENT; CPCMR
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES; DIDDF
INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 65; MRT65
INTELLECTUAL DISABILITY-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE; MRXSSB
SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES; SBIDDS
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1; XLID1
intellectual disability, autosomal recessive 61
developmental and epileptic encephalopathy, 67
spondyloepimetaphyseal dysplasia, Bieganski type
intellectual developmental disorder, autosomal recessive 77
neurodevelopmental disorder with involuntary movements
complex cortical dysplasia with other brain malformations 7
neurodevelopmental disorder with or without autism or seizures
alternating hemiplegia of childhood 1
Baraitser-Winter syndrome 1
hyperphosphatasia with intellectual disability syndrome 1
Karayol-Borroto-Haghshenas neurodevelopmental syndrome
developmental and epileptic encephalopathy, 19
microcephaly 7, primary, autosomal recessive
neurodevelopmental disorder with or without seizures and gait abnormalities
Teebi hypertelorism syndrome 2
cobblestone lissencephaly without muscular or ocular involvement
Fliedner-Zweier syndrome
intellectual developmental disorder with severe speech and ambulation defects
Borjeson-Forssman-Lehmann syndrome
hyperphosphatasia with intellectual disability syndrome 5
intellectual disability, autosomal dominant 15
Usmani-Riazuddin syndrome, autosomal recessive
fatty acyl-CoA reductase 1 deficiency
Bardet-Biedl syndrome 9
peroxisome biogenesis disorder 14B
congenital disorder of deglycosylation 2
microcephaly, short stature, and impaired glucose metabolism 1
immunoskeletal dysplasia with neurodevelopmental abnormalities
neurooculorenal syndrome
Lowry-Wood syndrome
neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia
neurodevelopmental disorder with speech impairment and with or without seizures
intellectual developmental disorder, autosomal dominant 73
epilepsy, early-onset, 3, with or without developmental delay
Hoxha-Aliu syndrome
neurodevelopmental disorder with language delay and seizures
periventricular heterotopia with microcephaly, autosomal recessive
maple syrup urine disease type 1A
mitochondrial complex III deficiency nuclear type 1
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
MEHMO syndrome
Juberg-Hayward syndrome
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
alpha-N-acetylgalactosaminidase deficiency type 1
Joubert syndrome 18
Aicardi-Goutieres syndrome 1
acromelic frontonasal dysostosis
mitochondrial complex I deficiency, nuclear type 12
developmental and epileptic encephalopathy, 38
facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
X-linked reticulate pigmentary disorder
osteoporosis, childhood- or juvenile-onset, with developmental delay
hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
velocardiofacial syndrome
neurodevelopmental disorder with seizures and gingival overgrowth
intellectual developmental disorder, autosomal dominant 74
short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
van Maldergem syndrome 1
immunodeficiency-centromeric instability-facial anomalies syndrome 1
Possible
75 genes — click to expand
congenital disorder of glycosylation, type IIbb
Fanconi anemia complementation group B
Galloway-Mowat syndrome 7
VISS syndrome
hypogonadotropic hypogonadism 26 with or without anosmia
intellectual developmental disorder, autosomal recessive 78
Diamond-Blackfan anemia 1
Alfadhel syndrome
intellectual disability, autosomal recessive 14
glycogen storage disease due to phosphoglycerate kinase 1 deficiency
beta-ketothiolase deficiency
otofaciocervical syndrome 1
Fanconi anemia complementation group A
xeroderma pigmentosum group A
PERCHING syndrome
Seckel syndrome 6
intellectual developmental disorder, X-linked 113
arthrogryposis multiplex congenita 5
hereditary spastic paraplegia 48
intellectual disability, autosomal recessive 66
mulibrey nanism
hydrocephalus, nonsyndromic, autosomal recessive 1
microcephaly, epilepsy, and diabetes syndrome 1
obesity, hyperphagia, and developmental delay
microcephaly, short stature, and impaired glucose metabolism 2
peripheral motor neuropathy, childhood-onset, biotin-responsive
CEDNIK syndrome
Prieto syndrome
telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature
optic atrophy 12
linear skin defects with multiple congenital anomalies 1
intellectual disability, autosomal recessive 59
EPILEPSY, X-LINKED 1, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS; EPILX1
xeroderma pigmentosum group F
Chediak-Higashi syndrome
mitochondrial DNA depletion syndrome, myopathic form
chromosome 15q13.3 microdeletion syndrome
pituitary hormone deficiency, combined, 1
microcephaly, developmental delay, and brittle hair syndrome
congenital disorder of glycosylation with defective fucosylation 2
intellectual developmental disorder, autosomal recessive 83
optic atrophy 11
craniometaphyseal dysplasia, autosomal recessive
Related phenotype searches
Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.