A new form of familial ataxia, deafness, and mental retardation.
Conditions causing familial ataxia, deafness, and developmental delay are considered in the context of describing brothers with a new disorder characterised by these clinical features.
Reardon
W
W
Department of Clinical Genetics, Hospital for Sick Children, London, UK.
Wilson
J
J
Cavanagh
N
N
Baraitser
M
M
D002524:Cerebellar Ataxia / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree