Gene
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Associated condition(s)
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General resources
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Detailed information
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ACTB
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Baraitser-Winter syndrome
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Unique
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GeneReviews
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ADNP
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ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
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Unique, ADNP Foundation
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GeneReviews
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AHDC1
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AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome / Xia-Gibbs syndrome
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MedlinePlus
|
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ANKRD11
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KBG syndrome
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Unique
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GeneReviews
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ARID1B
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Coffin-Siris syndrome
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MedlinePlus, NORD
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GeneReviews
|
|
ARID1B syndrome/ARID1B-related disorder
|
Unique
|
GeneReviews
|
ARX
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Early infantile epileptic encephalopathy 1
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|
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Partington syndrome
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MedlinePlus
|
|
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X-linked lissencephaly with abnormal genitalia
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AUTS2
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Autism spectrum disorder due to AUTS2 deficiency
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|
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ATRX
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Alpha-thalassemia - X-linked intellectual disability syndrome / Mental retardation hypotonic face syndrome (XL)
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Unique
|
GeneReviews
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CASK
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X-linked intellectual disability, Najm type
|
MedlinePlus, GARD
|
GeneReviews
|
|
Early infantile epileptic encephalopathy
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MedlinePlus, GARD
|
GeneReviews
|
CDK13
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Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
|
|
GeneReviews
|
CHD2
|
Lennox-Gastaut syndrome / CH2 myoclonic encephalopathy
|
MedlinePlus
|
GeneReviews
|
CHD7
|
CHARGE syndrome
|
CHARGE Syndrome Foundation MedlinePlus, NORD
|
GeneReviews
|
CREBBP
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Rubinstein-Taybi syndrome due to CREBBP mutations
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NORD
|
GeneReviews
|
CTNNB1
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Severe intellectual disability-progressive spastic diplegia syndrome
|
Unique
|
|
DDX3X
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X-linked intellectual disability-hypotonia-movement disorder syndrome
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Unique, DDX3X Foundation
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GeneReviews
|
DYNC1H1
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Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
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GARD, MedlinePlus
|
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DYRK1A
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Autosomal dominant non-syndromic intellectual disability
|
DYRK1A Association, Unique
|
GeneReviews
|
EHMT1
|
Kleefstra syndrome due to 9q34 microdeletion / Kleefstra syndrome due to a point mutation
|
Unique
|
GeneReviews
|
EP300
|
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
|
NORD
|
GeneReviews
|
ERCC6
|
Cockayne syndrome type 1 (COFS syndrome)
|
NORD, GARD
|
GeneReviews
|
FOXP1
|
Intellectual disability-severe speech delay-mild dysmorphism syndrome
|
GARD
|
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GRIN2B
|
Autosomal dominant non-syndromic intellectual disability
|
Unique
|
GeneReviews
|
HUWE1
|
X-linked intellectual disability, Turner type
|
|
|
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Juberg-Marsidi syndrome
|
NORD
|
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ITPR1
|
Spinocerebellar ataxia type 29
|
|
|
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Spinocerebellar ataxia type 15 (SCA15)
|
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GeneReviews
|
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Gillespie syndrome
|
MedlinePlus, GARD
|
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KAT6A
|
Mental retardation, autosomal dominant 32
|
Unique, NORD
|
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KAT6B
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Blepharophimosis-intellectual disability syndrome, SBBYS type / Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
|
MedlinePlus, GARD
|
GeneReviews
|
|
Genitopatellar syndrome
|
MedlinePlus
|
GeneReviews
|
KCNQ2
|
Early infantile epileptic encephalopathy
|
NORD, KCNQ2Cure
|
GeneReviews
|
KIF1A
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Autosomal dominant non-syndromic intellectual disability
|
Unique, NORD
|
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KMT2A
|
Wiedemann-Steiner syndrome
|
GARD
|
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KMT2D
|
Kabuki syndrome
|
Better Health Channel, MedlinePlus, NORD
|
GeneReviews
|
MECP2
|
MECP2-related severe neonatal encephalopathy
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MedlinePlus
|
GeneReviews
|
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Rett syndrome
|
Rettsydnrome.org
MedlinePlus
|
GeneReviews
|
MED12
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X-linked non-syndromic intellectual disability
|
Unique
|
GeneReviews
|
|
X-linked intellectual disability with marfanoid habitus
|
Unique
|
GeneReviews
|
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Blepharophimosis-intellectual disability syndrome, MKB type
|
Unique
|
GeneReviews
|
MED13L
|
MED13L syndrome
|
MedlinePlus
|
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NALCN
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Hypotonia-speech impairment-severe cognitive delay syndrome
|
|
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NF1
|
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
|
Better Health Channel Victoria, MedlinePlus, NORD
|
GeneReviews
|
NSD1
|
Sotos syndrome
|
Sotos Syndrome Australia, NORD
|
GeneReviews
|
POGZ
|
White-Sutton syndrome
|
White Sutton Syndrome Foundation
|
|
PPP2R5D
|
Intellectual disability-macrocephaly-hypotonia-behavioural abnormalities syndrome
|
MedlinePlus
|
GeneReviews
|
PURA
|
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
|
Unique
|
GeneReviews
|
PTPN11
|
LEOPARD syndrome (Noonan syndrome with multiple lentigines)
|
NORD
|
GeneReviews
|
|
Noonan syndrome
|
NORD, Mayo Clinic, MedlinePlus
|
GeneReviews
|
SATB2
|
Glass syndrome / SATB2-associated syndrome
|
Unique, SATB2-associated syndrome foundation
|
GeneReviews
|
SCN2A
|
SCN2A-related conditions
|
Unique
|
Human Disease Genes
|
|
Early infantile epileptic encephalopathy
|
|
|
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West syndrome
|
NORD
|
|
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Dravet syndrome
|
Epilepsy Foundation, NORD
|
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SCN8A
|
Early infantile epileptic encephalopathy
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SCN8A Epilepsy, MedlinePlus
|
GeneReviews
|
SETD5
|
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
|
Unique
|
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SLC6A1
|
Myoclonic-astastic epilepsy
|
NORD, SLC6A1Connect
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SMC1A
|
Cornelia de Lange syndrome
|
CdLS Foundation, NORD, MedlinePlus
|
GeneReviews
|
SRCAP
|
Floating-Harbor syndrome
|
Unique, NORD
|
GeneReviews
|
STXBP1
|
Early infantile epileptic encephalopathy
|
Unique
|
GeneReviews
|
|
Dravet syndrome
|
Epilepsy Foundation, NORD
|
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SYNGAP1
|
Autosomal dominant non-syndromic intellectual disability
|
Unique, Bridge the Gap - SYNGAP Foundation
|
NORD, GeneReviews
|
TCF4
|
Autosomal dominant non-syndromic intellectual disability
|
|
|
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Pitt-Hopkins syndrome
|
NORD, GARD
|
GeneReviews
|
TCF20
|
Intellectual disability with postnatal overgrowth
|
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