| Metadata | |
|---|---|
| ID | DOID:0112070 |
| Name | nuclear type mitochondrial complex I deficiency 18 |
| Definition | A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF3 gene on chromosome 2p21.31. https://pubmed.ncbi.nlm.nih.gov/19463981/ |
| Xrefs | |
| Synonyms |
MC1DN18 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |