Term Name: | mitochondrial complex V (ATP synthase) deficiency nuclear type 4A |
---|---|
Synonyms: | MC5DN4A |
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. |
Ontology: | Human Disease [DOID:0070461] ( DOID:0070461 ) |