Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

Disease Term Disease ID Gene Symbol Classification References Source
RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME
494439MONDO:0044634
EXOSC2 Causal
26843489 29302074 30315573 30950035 31964843 33333712 36069504
ClinVar Disgenet Orphanet