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Metadata
ID DOID:0112093
Name nuclear type mitochondrial complex I deficiency 3
Definition A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS7 gene on chromosome 19p13.3.
https://pubmed.ncbi.nlm.nih.gov/10330338/, https://pubmed.ncbi.nlm.nih.gov/17275378/
Xrefs

OMIM:618224

Synonyms

MC1DN3 [EXACT]

Parent Relationships

is_a nuclear type mitochondrial complex I deficiency

is_a autosomal recessive disease

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