X-linked spinocerebellar ataxia type 3
A form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0016612
X-linked cerebellar ataxia
is_a
SCAX3
exact
X-linked ataxia-deafness syndrome
exact
ataxia-deafness syndrome X-linked
related
spinocerebellar ataxia X-linked type 3
related
spinocerebellar ataxia, X-linked type 3
exact