Cerebellar ataxia, Cayman type

Orpha code: 94122OMIM code: 601238

Definicja

A rare, autosomal recessive, congenital, cerebellar ataxia disorder characterized by hypotonia from birth, marked psychomotor delay and prominent cerebellar dysfunction (manifesting with nystagmus, intention tremor, dysarthria, ataxic gait and truncal ataxia), described in an isolated population of the Grand Cayman Island. Cerebellar hypoplasia, observed on CT scan, may be associated.

Disease data
Klasyfikacja

Disease

Synonimy
Cayman ataxia
Ataksja Caymana
Kod ORPHA
94122
Kod OMIM
601238
Kod ICD10
G11.0
Kod ICD11
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl