Term Name:	mitochondrial complex V (ATP synthase) deficiency nuclear type 4B
Synonyms:	MC5DN4B
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.
Ontology:	Human Disease [DOID:0070462]   ( DOID:0070462 )