Cerebellar ataxia-ectodermal dysplasia syndrome

Orpha code: 1174OMIM code: 212835

Definition

A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.

Disease data
Classification

Malformation syndrome

ORPHA code
1174
OMIM code
212835
ICD10 code
G11.1
ICD11 code
LD27.0Y

No additional description.

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