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MIRAGE
nuclear type mitochondrial complex I deficiency 34
Summary
- Synonym
-
- MC1DN34
- Definition
- A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF8 gene on chromosome 17q25.3.
- Super Class
- autosomal recessive disease nuclear type mitochondrial complex I deficiency
External Links
- Disease Ontology
- DOID:0112091
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| A1L188 | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8 |
