Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 6.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Popliteal pterygium syndrome 1 119500 |
Green in CleftingComponent of the following Super Panels:
Signed-off version 5.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Orofacial cleft 6, 608864, Cleft Lip with or without Cleft Palate, Orofacial Clefting with skeletal features, Cleft lip +/- palate- unilateral or bilateral, cleft palate, lip pits, VAN DER WOUDE SYNDROME 1, VWS1, POPLITEAL PTERYGIUM SYNDROME, PPS, Cleft palate |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes VAN DER WOUDE SYNDROME 119300, POPLITEAL PTERYGIUM SYNDROME 119500 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes POPLITEAL PTERYGIUM SYNDROME, VAN DER WOUDE SYNDROME |
Green in Van der Woude syndromeR-numbers: R284 Signed-off version 1.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes |