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Metadata
ID DOID:0112066
Name nuclear type mitochondrial complex I deficiency 6
Definition A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compund heterozygous mutation in the NDUFS2 gene on chromosome 1q23.
https://pubmed.ncbi.nlm.nih.gov/11220739/
Xrefs

OMIM:618228

Synonyms

MC1DN6 [EXACT]

Parent Relationships

is_a nuclear type mitochondrial complex I deficiency

is_a autosomal recessive disease

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