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MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (MC1DN16)

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (MC1DN16)
NDUFAF5
618238
OMIM = Online Mendelian Inheritance of Men
2609
Arginine-hydroxylase NDUFAF5, mitochondrial
20p12.1
very rare
autosomal recessive
mutation in the NDUFAF5 gene
Laboratory findings
Symptoms