nuclear type mitochondrial complex I deficiency 28

Term ID

DOID:0112095

Synonyms

MC1DN28

Definition

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA13 gene on chromosome 19p13.11. https://pubmed.ncbi.nlm.nih.gov/25901006/

References

OMIM:618249

Ontology

Human Disease ( DOID:0112095 )

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