nuclear type mitochondrial complex I deficiency 31

Term ID

DOID:0112071

Synonyms

MC1DN31

Definition

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMMDC1 gene on chromosome 3q13.33. https://pubmed.ncbi.nlm.nih.gov/28604674/

References

OMIM:618251

Ontology

Human Disease ( DOID:0112071 )

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