Disease Term Disease ID Gene Symbol References
Duane Retraction Syndrome C0013261, 233 CDH2 17222817
CHN1 18653847
CREBBP
EP300
OPA1
KIAA0586
MAFB 27181683
DNM1L
SALL4 16402211, 30067223
PIEZO2
CSPP1
COL25A1 26486031, 25500261
CCNQ
ARX
Type 1 Duane Retraction Syndrome C0994516 CHN1
MAFB 27181683
SALL4 30067223, 16402211
DUANE RETRACTION SYNDROME 3 C4310873 MAFB