Rare Disease Library

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

Allan-Herndon-Dudley syndrome

AHDS · MCT8 deficiency

Atkin-Flaitz syndrome

X-linked intellectual disability, Atkin type

CLCN4-related X-linked intellectual disability syndrome

Raynaud-Claes syndrome

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

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

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

Non-progressive cerebellar ataxia with intellectual disability

OBSOLETE: Intellectual disability-unusual facies syndrome

OBSOLETE: Morillo Cucci-Passarge syndrome

OBSOLETE: Intellectual disability-unusual facies, Davis-Lafer type

OBSOLETE: Davis-Lafer syndrome

OBSOLETE: MECP2 duplication syndrome

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

OBSOLETE: Syndromic neurometabolic disease with non-X-linked intellectual disability

OBSOLETE: Syndromic neurometabolic disease with X-linked intellectual disability

OBSOLETE: Trichodermal syndrome-intellectual disability syndrome

OBSOLETE: Katsantoni-Papadakou Lagoyanni syndrome

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

OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome

Proximal Xq28 duplication syndrome

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

Renpenning syndrome

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

Severe X-linked intellectual disability, Gustavson type

Gustavson syndrome

Syndromic X-linked intellectual disability 7

MRXS7 · X-linked intellectual disability, Ahmad type

Wilson-Turner syndrome

WTS · X-linked intellectual disability-gynecomastia-obesity 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

X-linked intellectual disability-ataxia-apraxia syndrome

X-linked intellectual disability-craniofacioskeletal syndrome

X-linked intellectual disability-epilepsy syndrome

X-linked intellectual disability-hypotonic face syndrome

X-linked intellectual disability-short stature-overweight syndrome

X-linked intellectual disability-spastic paraplegia with iron deposits syndrome

Arena syndrome

X-linked intellectual disability, Abidi type

X-linked intellectual disability, Armfield type

Armfield syndrome

X-linked intellectual disability, Brooks type

X-linked intellectual disability, Cabezas type

Cabezas syndrome

X-linked intellectual disability, Cantagrel type

X-linked intellectual disability, Cilliers type

X-linked intellectual disability-microcephaly-testicular failure syndrome

X-linked intellectual disability, Fichera type