has material basis in germline mutation in GFER inborn mitochondrial myopathy congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/myopathy_mitochondrial_progressive_with_congenital_cataract_and_developmental_delay MEDGEN:416525 myopathy, mitochondrial progressive, with congenital cataract and developmental delay congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome MESH:C567769 GARD:0010522 MONDO:0013116 myopathy with cataract and combined respiratory-chain deficiency Orphanet:330054 UMLS:C2751320 OMIM:613076 mitochondrial oxidative phosphorylation disorder