Visualize Submit Comment
Metadata
ID DOID:0112071
Name nuclear type mitochondrial complex I deficiency 31
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/
Xrefs

OMIM:618251

Synonyms

MC1DN31 [EXACT]

Parent Relationships

is_a nuclear type mitochondrial complex I deficiency

is_a autosomal recessive disease

Add an item to the term tracker