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DOID:0070462 - mitochondrial complex V (ATP synthase) deficiency nuclear type 4B
Disease Ontology 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.
Synonyms: MC5DN4B
Xenbase Genes
:
atp5f1a
| MIM:615228 - MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4B; MC5DN4B |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
mitochondrial complex V (ATP synthase) deficiency nuclear type 4 (is_a)