Disease: Cavovarus deformity of foot ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0579144
Disease: Cavovarus deformity of foot
Cavovarus deformity of foot 		0.010 GeneticVariation phenotype BEFREE Mutations in ATP1A3 are involved in a large spectrum of neurological disorders, including rapid onset dystonia parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS), with recent descriptions of overlapping phenotypes. 27726050 2017