Visualize Submit Comment

Metadata
ID	DOID:0112074
Name	nuclear type mitochondrial complex I deficiency 1
Definition	A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS4 gene on chromosome 5q11.2. https://pubmed.ncbi.nlm.nih.gov/10330338/, https://pubmed.ncbi.nlm.nih.gov/10944442/
Xrefs	MIM:252010
Synonyms	MC1DN1 [EXACT]
Parent Relationships	is_a nuclear type mitochondrial complex I deficiency is_a autosomal recessive disease