| Metadata | |
|---|---|
| ID | DOID:0070462 |
| Name | mitochondrial complex V (ATP synthase) deficiency nuclear type 4B |
| Definition | A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by onset at birth of horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation, followed by fatal encephalopathy that has_material_basis_in autosomal recessive inheritance. https://pubmed.ncbi.nlm.nih.gov/23599390/ |
| Xrefs | |
| Synonyms |
MC5DN4B [EXACT] |
| Parent Relationships |
is_a mitochondrial complex V (ATP synthase) deficiency nuclear type 4 |