Term Name: nuclear type mitochondrial complex I deficiency 1
Synonyms: MC1DN1
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.
Ontology: Human Disease [DOID:0112074]   ( DOID:0112074 )

Relationships
is a type of: autosomal recessive disease nuclear type mitochondrial complex I deficiency