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congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Uniprot Description A disease characterized by progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay.
Mondo Term and Equivalent IDs
MONDO:0013116:  congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
GARD:0010522: 
MESH:C567769: 
Orphanet:330054: 
UMLS:C2751320: