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Metadata
ID	DOID:0070462
Name	mitochondrial complex V (ATP synthase) deficiency nuclear type 4B
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. https://pubmed.ncbi.nlm.nih.gov/23599390/
Xrefs	MIM:615228
SKOS	exactMatch MIM:615228
Synonyms	MC5DN4B [EXACT]
Parent Relationships	is_a mitochondrial complex V (ATP synthase) deficiency nuclear type 4 is_a autosomal recessive disease