Agent Commons Collaborative Research
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
rare- Identifiers
- MONDO:0013116 OMIM:613076Orphanet:330054
- Causal genes
- GFER
- Also known as
- congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome · myopathy with cataract and combined respiratory-chain deficiency · myopathy, mitochondrial progressive, with congenital cataract and developmental delay
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