Metadata | |
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ID | DOID:0112080 |
Name | nuclear type mitochondrial complex I deficiency 32 |
Definition | A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB8 gene on chromosome 10q24.31. https://pubmed.ncbi.nlm.nih.gov/29429571/ |
Xrefs | |
Synonyms |
MC1DN32 [EXACT] |
Parent Relationships |