Term Name: | nuclear type mitochondrial complex I deficiency 33 |
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Synonyms: | MC1DN33 |
Definition: | A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA6 gene on chromosome 22q13.2. |
Ontology: | Human Disease [DOID:0112097] ( DOID:0112097 ) |