Rare Disease Library

Renpenning syndrome

X-linked intellectual disability due to PQBP1 mutations · X-linked intellectual disability, Renpenning type

Allan-Herndon-Dudley syndrome

AHDS · MCT8 deficiency

Alopecia-contractures-dwarfism-intellectual disability syndrome

ACD-intellectual disability syndrome

Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

ATR syndrome linked to chromosome 16 · ATR syndrome, deletion type

Atkin-Flaitz syndrome

X-linked intellectual disability, Atkin type

CK syndrome

X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

CLCN4-related X-linked intellectual disability syndrome

Raynaud-Claes syndrome

Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation

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

Deafness-intellectual disability syndrome, Martin-Probst type

X-linked hearing loss-intellectual disability syndrome · Martin-Probst syndrome

Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation

FRAXE intellectual disability

Intellectual disability associated with fragile site FRAXE

HSD10 disease, atypical type

HSD10 deficiency, atypical type · Syndromic X-linked intellectual disability type 10

Intellectual disability syndrome due to a DYRK1A point mutation

DYRK1A-related intellectual disability syndrome due to a point mutation

Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome

Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene

Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation

Intellectual disability, Wolff type

Wolff-Zimmermann syndrome

Kahrizi syndrome

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

KDM5C-related syndromic X-linked intellectual disability

Lujan-Fryns syndrome

X-linked intellectual disability with marfanoid habitus

Mietens syndrome

Intellectual disability, Mietens-Weber type

Mowat-Wilson syndrome due to a ZEB2 point mutation

Hirschsprung disease and intellectual disability due to a ZEB2 point mutation

Mowat-Wilson syndrome due to monosomy 2q22

Hirschsprung disease and intellectual disability due to 2q22 microdeletion · Hirschsprung disease and intellectual disability due to del(2)(q22)

Multiple congenital anomalies/dysmorphic syndrome without intellectual disability

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

OBSOLETE: MECP2 duplication syndrome

OBSOLETE: X-linked intellectual disability-hypotonia-recurrent Infections syndrome · OBSOLETE: Lubs-Arena syndrome

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 dominant intellectual disability-epilepsy syndrome

OBSOLETE: X-linked intellectual disability-obesity-short stature syndrome

OBSOLETE: X-linked intellectual disability-precocious puberty-obesity syndrome

OBSOLETE: X-linked intellectual disability, Martinez type

OBSOLETE: X-linked intellectual disability, Raynaud type

OBSOLETE: X-linked intellectual disability, Schutz type

OBSOLETE: X-linked intellectual disability, Wittner type

Partington syndrome

Partington-Mulley syndrome · X-linked intellectual disability-dystonia-dysarthria syndrome

Proximal Xq28 duplication syndrome

MECP2 duplication syndrome · X-linked intellectual disability syndrome, Lubs type

Rare genetic intellectual disability

Rare intellectual disability

Severe X-linked intellectual disability, Gustavson type

Gustavson syndrome

SIN3-related intellectual disability syndrome due to a point mutation

Syndromic X-linked intellectual disability 7

MRXS7 · X-linked intellectual disability, Ahmad type

Vasquez-Hurst-Sotos syndrome

Hypogonadism-gynecomastia-X-linked intellectual disability syndrome

Wilson-Turner syndrome

WTS · X-linked intellectual disability-gynecomastia-obesity syndrome

X-linked alpha-thalassemia-intellectual disability syndrome

ATR-X syndrome

X-linked cerebral-cerebellar-coloboma syndrome

X-linked intellectual disability, Kroes type

X-linked intellectual disability due to GRIA3 mutations

X-linked intellectual disability with isolated growth hormone deficiency

MRGH