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Metadata
ID DOID:0112079
Name nuclear type mitochondrial complex I deficiency 24
Definition A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB9 gene on chromosome 8q24.13.
https://pubmed.ncbi.nlm.nih.gov/22200994/
Xrefs

MIM:618245

Synonyms

MC1DN24 [EXACT]

Parent Relationships

is_a nuclear type mitochondrial complex I deficiency

is_a autosomal recessive disease

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