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Metadata
ID DOID:0112080
Name nuclear type mitochondrial complex I deficiency 32
Definition A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFB8 on chromosome 10q24.31.
https://pubmed.ncbi.nlm.nih.gov/29429571/
Xrefs

OMIM:618252

Synonyms

MC1DN32 [EXACT]

Parent Relationships

is_a nuclear type mitochondrial complex I deficiency

is_a autosomal recessive disease

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