Metadata | |
---|---|
ID | DOID:0112082 |
Name | nuclear type mitochondrial complex I deficiency 4 |
Definition | A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV1 gene on chromosome 11q13.2. https://pubmed.ncbi.nlm.nih.gov/10080174/ |
Xrefs | |
Synonyms |
MC1DN4 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |