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DOID:0070461 - mitochondrial complex V (ATP synthase) deficiency nuclear type 4A
Disease Ontology 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.
Synonyms: MC5DN4A,
Xenbase Genes
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Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
mitochondrial complex V (ATP synthase) deficiency nuclear type 4 (is_a)