Term Name: nuclear type mitochondrial complex I deficiency 21
Synonyms: MC1DN21
Definition: A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NUBPL gene on chromosome 14q12.
Ontology: Human Disease [DOID:0112088]   ( DOID:0112088 )

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