Cerebellar ataxia-ectodermal dysplasia syndrome
ORPHA:1174· ICD-10 G11.1
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.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal