nuclear type mitochondrial complex I deficiency 34

Term ID

DOID:0112091

Synonyms

MC1DN34

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/

References

MIM:618776

Ontology

Human Disease ( DOID:0112091 )

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