Name
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Synonmys
MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED ,
MYOPATHY WITH CATARACT AND COMBINED RESPIRATORY CHAIN DEFICIENCY
Classification
developmental,
eye,
genetic,
metabolism,
neurological,
otorhinolaryngological
Associated Genes
GFER
(Withdrawn symbols:
ALR,
ERV1,
HERV1,
HPO1,
HPO2,
HSS
)
Mouse Orthologs
Gfer
(Withdrawn symbols:
Alr
)
Source
OMIM:613076 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)