mitochondrial complex V (ATP synthase) deficiency nuclear type 4B (DOID:0070462)
Alliance: disease page
Synonyms: MC5DN4B
Alt IDs: OMIM:615228
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.