nuclear type mitochondrial complex I deficiency 17

Term ID

DOID:0112078

Synonyms

MC1DN17

Definition

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF6 gene on chromosome 8q22.1. https://pubmed.ncbi.nlm.nih.gov/18614015/

References

MIM:618239

Ontology

Human Disease ( DOID:0112078 )

Relationships

is a type of: autosomal recessive disease nuclear type mitochondrial complex I deficiency

autosomal recessive disease nuclear type mitochondrial complex I deficiency Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models