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cerebellar ataxia-ectodermal dysplasia syndrome

Disease Summary
Associated Targets ()

Mondo Description Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.
Mondo Term and Equivalent IDs
MONDO:0008934:  cerebellar ataxia-ectodermal dysplasia syndrome
GARD:0001189: 
MESH:C535350: 
Orphanet:1174: 
SCTID:715371006: 
UMLS:C1859306: