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Metadata
ID DOID:0112076
Name nuclear type mitochondrial complex I deficiency 13
Definition A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA2 gene on chromosome 5q31.3.
https://pubmed.ncbi.nlm.nih.gov/18513682/
Xrefs

OMIM:618235

Synonyms

MC1DN13 [EXACT]

Parent Relationships

is_a nuclear type mitochondrial complex I deficiency

is_a autosomal recessive disease

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