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Metadata
ID DOID:0112075
Name nuclear type mitochondrial complex I deficiency 10
Definition A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF2 gene on chromosome 5q12.1.
https://pubmed.ncbi.nlm.nih.gov/16200211/
Xrefs

MIM:618233

Synonyms

MC1DN10 [EXACT]

Parent Relationships

is_a nuclear type mitochondrial complex I deficiency

is_a autosomal recessive disease

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