nuclear type mitochondrial complex I deficiency 33

Term ID

DOID:0112097

Synonyms

MC1DN33

Definition

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA6 gene on chromosome 22q13.2. https://pubmed.ncbi.nlm.nih.gov/30245030/

References

MIM:618253

Ontology

Human Disease ( DOID:0112097 )

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