nuclear type mitochondrial complex I deficiency 22

Term ID

DOID:0112069

Synonyms

MC1DN22

Definition

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA10 gene on chromosome 2q37.3. https://pubmed.ncbi.nlm.nih.gov/21150889/

References

OMIM:618243

Ontology

Human Disease ( DOID:0112069 )

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

Citations