Metadata | |
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ID | DOID:0112076 |
Name | nuclear type mitochondrial complex I deficiency 13 |
Definition | A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA2 gene on chromosome 5q31.3. https://pubmed.ncbi.nlm.nih.gov/18513682/ |
Xrefs | |
Synonyms |
MC1DN13 [EXACT] |
Parent Relationships |