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Metadata
ID DOID:0112091
Name nuclear type mitochondrial complex I deficiency 34
Definition A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF8 gene on chromosome 17q25.3.
https://pubmed.ncbi.nlm.nih.gov/31866046/
Xrefs

MIM:618776

Synonyms

MC1DN34 [EXACT]

Parent Relationships

is_a nuclear type mitochondrial complex I deficiency

is_a autosomal recessive disease

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