Duane-radial ray syndrome

Disease Term Disease ID Gene Symbol Classification References Source
DUANE-RADIAL RAY SYNDROME
607323MONDO:0011812
SALL4 Causal
12395297 12393809 26791099 17256792
ClinVar GWAS catalog HPO
OKIHIRO SYNDROME
C1623209
IPO8 Unknown — Disgenet
SALL4 Unknown — Disgenet
OKIHIRO SYNDROME DUE TO 20Q13 MICRODELETION
261638
SALL4 Unknown
16086360 20301547
Orphanet
OKIHIRO SYNDROME DUE TO A POINT MUTATION
261647C5679683
SALL4 Unknown
16086360 20301547
Disgenet Orphanet
OKIHIRO SYNDROME DUE TO DEL
C5679682
SALL4 Unknown — Disgenet