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cataract-ataxia-deafness syndrome

Disease Summary
Associated Targets ()

Mondo Description Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0008928:  cataract-ataxia-deafness syndrome
GARD:0001141: 
MESH:C538283: 
Orphanet:1368: 
UMLS:C0796123: