Ataxia-tapetoretinal degeneration syndrome

Definition

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

Classification

Disease

ORPHA code

1178

OMIM code

272600

ICD10 code

G11.1

ICD11 code

*Soruce