Ataxia-tapetoretinal degeneration syndrome

Orpha code: 1178OMIM code: 272600

Definicja

A rare hereditary ataxia characterized by simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963.

Disease data
Klasyfikacja

Disease

Kod ORPHA
1178
Kod OMIM
272600
Kod ICD10
G11.1
Kod ICD11
-

No additional description.

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