Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss

Disease Term Disease ID Gene Symbol Classification References Source
CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS
601338
ATP1A3 Unknown — HPO
CEREBELLAR ATAXIA-AREFLEXIA-PES CAVUS-OPTIC ATROPHY-SENSORINEURAL HEARING LOSS SYNDROME
1171MONDO:0011038
ATP1A3 Causal
24468074
ClinVar GenCC Orphanet