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Metadata
ID DOID:0112067
Name nuclear type mitochondrial complex I deficiency 25
Definition A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous and compound heterozygous mutation in the NDUFB3 gene on chromosome 2q33.1.
https://pubmed.ncbi.nlm.nih.gov/22277967/
Xrefs

OMIM:618246

Synonyms

MC1DN25 [EXACT]

Parent Relationships

is_a nuclear type mitochondrial complex I deficiency

is_a autosomal recessive disease

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