mitochondrial complex V (ATP synthase) deficiency nuclear type 4A (DOID:0070461)
Alliance: disease page
Synonyms: MC5DN4A
Alt IDs: OMIM:620358
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.