Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Lethal congenital contractural syndrome 2 OMIM:607598, lethal congenital contracture syndrome 2 MONDO:0011868 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hirschprung disease with intestinal pseudo-obstruction, LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2 607598 |
R-numbers: R438 Signed-off version 1.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Visceral neuropathy, familial, 1, autosomal recessive, OMIM:243180 |