Rare Disease Library

X-linked spinocerebellar ataxia type 4

SCAX4 · X-linked ataxia-dementia syndrome

Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

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

Ataxia-pancytopenia syndrome

ATXPC syndrome · SAMD9L-related ataxia-pancytopenia syndrome

Blepharophimosis-intellectual disability syndrome, MKB type

BMRS, MKB type · BMRS, Maat-Kievit-Brunner type

Cataract-ataxia-deafness syndrome

Cataract-ataxia-hearing loss syndrome

Christianson syndrome

X-linked Angelman-like syndrome

Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome

HADDS · Hypotonia-ataxia-delayed developmental syndrome

Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome

Ataxia-delayed dentition-hypomyelination syndrome

McLeod neuroacanthocytosis syndrome

MLS · X-linked McLeod syndrome

OBSOLETE: X-linked Opitz G/BBB syndrome

OBSOLETE: XLOS · OBSOLETE: X-linked Opitz syndrome

Simpson-Golabi-Behmel syndrome

DGSX · Golabi-Rosen syndrome

X-linked alpha-thalassemia-intellectual disability syndrome

ATR-X syndrome

X-linked Alport syndrome

X-linked cerebellar ataxia

X-linked Ehlers-Danlos syndrome

EDS V · Ehlers-Danlos syndrome type 5

X-linked fetal akinesia syndrome

Holmes-Benacerraf syndrome

X-linked hyper-IgM syndrome

HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency

X-linked ichthyosis syndrome

X-linked intellectual disability-ataxia-apraxia syndrome

X-linked mandibulofacial dysostosis

Mandibulofacial dysostosis, Toriello type · X-linked branchial arch syndrome

X-linked mixed deafness with perilymphatic gusher

Conductive deafness with stapes fixation · DFNX2

X-linked scapuloperoneal muscular dystrophy

X-linked SPMD · X-linked scapuloperoneal syndrome

X-linked spinocerebellar ataxia type 3

SCAX3 · X-linked ataxia-deafness syndrome