Term Name: nuclear type mitochondrial complex I deficiency 5
Synonyms: MC1DN5
Definition: A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS1 gene on chromosome 2q33.3.
Ontology: Human Disease [DOID:0112068]   ( DOID:0112068 )

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