Disease Term Disease ID Gene Symbol References
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3 C1969655 MYBPC1 22610851
PIP5K1C 17701898
LETHAL CONGENITAL CONTRACTURE SYNDROME 1 C1854664 GLE1 18204449, 23421748, 16892327
LETHAL CONGENITAL CONTRACTURE SYNDROME 10 C4310760 ZC2HC1C
NEK9 26908619
LETHAL CONGENITAL CONTRACTURE SYNDROME 11 C4310670 GLDN 27616481
Lethal Congenital Contracture Syndrome 2 C1843478 ERBB3 12519750, 17709104, 17701904
LETHAL CONGENITAL CONTRACTURE SYNDROME 4 C3554046 MYBPC1 26661508, 22610851, 20045868
LETHAL CONGENITAL CONTRACTURE SYNDROME 5 C3809272 DNM2 23092955, 15731758
LETHAL CONGENITAL CONTRACTURE SYNDROME 6 C4015686 ZBTB42 25055871
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 C4225386 CNTNAP1 27782105, 27668699, 28374019, 24319099, 28254648
LETHAL CONGENITAL CONTRACTURE SYNDROME 8 C4225385 ADCY6 24319099, 26257172
LETHAL CONGENITAL CONTRACTURE SYNDROME 9 C4225303 ADGRG6 26004201
Lethal congenital contracture syndrome type 1 1486 GLE1
Lethal congenital contracture syndrome type 2 137776 ERBB3
Lethal congenital contracture syndrome type 3 137783 PIP5K1C
MYBPC1