nuclear type mitochondrial complex I deficiency 27

Term ID

DOID:0112090

Synonyms

MC1DN27

Definition

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22.31. https://pubmed.ncbi.nlm.nih.gov/22499348/

References

OMIM:618248

Ontology

Human Disease ( DOID:0112090 )

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