Arthrogryposis with oculomotor limitation and retinal anomalies

Disease Term Disease ID Gene Symbol Classification References Source
ARTHROGRYPOSIS- OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME
MONDO:0007158
PIEZO2 Causal — ClinVar GenCC
ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME
1154
PIEZO2 Unknown
23487782
Orphanet