Rare Disease Library

Congenital muscular dystrophy with intellectual disability and severe epilepsy

CDG syndrome type Iu · CDG-Iu

3-methylglutaconic aciduria type 9

3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome · MGA9

3p25.3 microdeletion syndrome

Del(3)p(25.3) · Intellectual disability-epilepsy-stereotypic hand movement syndrome

Alopecia-contractures-dwarfism-intellectual disability syndrome

ACD-intellectual disability syndrome

Alopecia-epilepsy-pyorrhea-intellectual disability syndrome

Shokeir syndrome

Alopecia-intellectual disability syndrome

Perniola-Krajewska-Carnevale syndrome

Aniridia-cerebellar ataxia-intellectual disability syndrome

Gillespie syndrome

Aniridia-intellectual disability syndrome

Walker-Dyson syndrome

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome

Borjeson-Forssman-Lehmann syndrome

BFLS · Intellectual disability-epilepsy-endocrine disorders syndrome

Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome

Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers · Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome

Congenital insensitivity to pain with severe intellectual disability

Congenital absence of pain with severe intellectual disability · Congenital analgesia with severe intellectual disability

Congenital muscular dystrophy with intellectual disability

CMD with intellectual disability · CMD-MR

Congenital muscular dystrophy without intellectual disability

Congenital muscular dystrophy-dystroglycanopathy without intellectual disability · CMD without intellectual disability

Craniodigital-intellectual disability syndrome

Scott craniodigital syndrome · Scott-Bryant-Graham syndrome

Early-onset epilepsy-intellectual disability-brain anomalies syndrome

Congenital disorder of glycosylation due to PIGG deficiency · PIGG-CDG

Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome

Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome

Female restricted epilepsy with intellectual disability

Juberg-Hellman syndrome · EFMR

Focal epilepsy-intellectual disability-cerebro-cerebellar malformation

Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome

FRAXE intellectual disability

Intellectual disability associated with fragile site FRAXE

Hernández-Aguirre Negrete syndrome

Intellectual disability-epilepsy-bulbous nose syndrome

Intellectual disability-cupped ears syndrome

Snijders Blok-Fisher syndrome

Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome

Den Hoed-De Boer-Voisin syndrome

Intellectual disability-epilepsy-extrapyramidal syndrome

Intellectual disability-strabismus syndrome

Intellectual disability, Buenos-Aires type

Mutchinick syndrome

Intellectual disability, Wolff type

Wolff-Zimmermann syndrome

Kahrizi syndrome

Intellectual disability, Kahrizi type · Intellectual disability-cataract-coloboma-kyphosis syndrome

Lujan-Fryns syndrome

X-linked intellectual disability with marfanoid habitus

Mietens syndrome

Intellectual disability, Mietens-Weber type

Moynahan syndrome

Alopecia-epilepsy-intellectual disability syndrome, Moynahan type

Multiple congenital anomalies/dysmorphic syndrome without intellectual disability

MCA without intellectual disability · Multiple congenital anomalies without intellectual disability with or without dysmorphism

Non-progressive cerebellar ataxia with intellectual disability

Northern epilepsy

Progressive epilepsy-intellectual disability syndrome, Finnish type · CLN8 disease, Northern epilepsy variant

OBSOLETE: X-linked congenital disorder of glycosylation with intellectual disability as a major feature

OBSOLETE: X-linked CDG with intellectual disability as a major feature

OBSOLETE: X-linked dominant intellectual disability-epilepsy syndrome

Optic atrophy-intellectual disability syndrome

BBSOAS · Bosch-Boonstra-Schaaf optic atrophy syndrome

Pachygyria-intellectual disability-epilepsy syndrome

Kuzniecky syndrome

Premature chromosome condensation with microcephaly and intellectual disability

Pseudoprogeria syndrome

Hal-Berg-Rudolph syndrome · Absent eyebrows and eyelashes-intellectual disability syndrome

Rare genetic intellectual disability

Rare genetic syndromic intellectual disability

Rare intellectual disability

Rare non-syndromic intellectual disability

Rare NSID

Rare syndromic intellectual disability

Severe intellectual disability and progressive spastic paraplegia

AP4 deficiency syndrome

Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia

Severe X-linked intellectual disability, Gustavson type

Gustavson syndrome