Term Name: nuclear type mitochondrial complex I deficiency 2
Synonyms: MC1DN2
Definition: A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS8 gene on chromosome 11q13.2.
Ontology: Human Disease [DOID:0112083]   ( DOID:0112083 )

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