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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 21-01-2020 |
Symbol | C3MTND1 |
Location | 19q12 |
Name | mitochondrial complex III (CIII) deficiency 1 |
Corresponding gene | UQCRFS1 |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | cardiovascular |
neuromuscular | |
dermatology | |
Type | MCA/MR |
Remark(s) |