| Metadata | |
|---|---|
| ID | DOID:0112084 |
| Name | nuclear type mitochondrial complex I deficiency 29 |
| Definition | A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126B gene on chromosome 11q14.1. https://pubmed.ncbi.nlm.nih.gov/27374773/ |
| Xrefs | |
| Synonyms |
MC1DN29 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |