| Metadata | |
|---|---|
| ID | DOID:0070461 |
| Name | mitochondrial complex V (ATP synthase) deficiency nuclear type 4A |
| Definition | A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by infantile onset of poor feeding and failure to thrive that may resolve spontaneously or progress to include developmental delay with impaired intellectual development and movement abnormalities that has_material_basis_in autosomal dominant inheritance. https://pubmed.ncbi.nlm.nih.gov/34954817/, https://pubmed.ncbi.nlm.nih.gov/34483339/ |
| Xrefs | |
| SKOS |
exactMatch MIM:620358 |
| Synonyms |
MC5DN4A [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a mitochondrial complex V (ATP synthase) deficiency nuclear type 4 |
| Subclass Logical Relationships |
existence starts during some Infantile onset has material basis in some autosomal dominant inheritance |