Rare Disease Library

FRAXE intellectual disability

Intellectual disability associated with fragile site FRAXE

Alopecia-contractures-dwarfism-intellectual disability syndrome

ACD-intellectual disability syndrome

Alopecia-intellectual disability syndrome

Perniola-Krajewska-Carnevale syndrome

Aniridia-intellectual disability syndrome

Walker-Dyson syndrome

Atkin-Flaitz syndrome

X-linked intellectual disability, Atkin type

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 with intellectual disability and severe epilepsy

CDG syndrome type Iu · CDG-Iu

Congenital muscular dystrophy without intellectual disability

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

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

MED13L-related intellectual disability syndrome

DYRK1A-related intellectual disability syndrome

DYRK1A syndrome

EGF-related primary hypomagnesemia with intellectual disability

Female restricted epilepsy with intellectual disability

Juberg-Hellman syndrome · EFMR

Intellectual disability, Wolff type

Wolff-Zimmermann syndrome

Lujan-Fryns syndrome

X-linked intellectual disability with marfanoid habitus

Multiple congenital anomalies/dysmorphic syndrome without intellectual disability

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

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

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

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 intellectual disability, Wittner type

Rare intellectual disability

Rare syndromic intellectual disability

Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome

IQSEC2-related syndromic intellectual disability

Spinocerebellar ataxia type 32

Cerebellar ataxia with azoospermia and intellectual disability · SCA32

Syndromic X-linked intellectual disability 7

MRXS7 · X-linked intellectual disability, Ahmad type

Witteveen-Kolk syndrome

SIN3A-related intellectual disability syndrome · WITKOS

X-linked intellectual disability, Abidi type

X-linked intellectual disability, Siderius type

X-linked intellectual disability, Stoll type

X-linked intellectual disability, Wilson type

X-linked intellectual disability, Wittwer type

Wittwer syndrome