Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 6.3 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes MOWAT-WILSON SYNDROME, MOWS |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes MOWAT-WILSON SYNDROME 235730 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Mowat-Wilson syndrome |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes MOWAT-WILSON SYNDROME |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Mowat-Wilson syndrome, 235730, MOWAT-WILSON SYNDROME (MWIS) |
R-numbers: R438 Signed-off version 1.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Mowat-Wilson syndrome, OMIM:235730 |
R-numbers: R100 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Mowat-Wilson syndrome 235730, 235730 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Mowat-Wilson syndrome 235730 |
Green in Structural eye diseaseR-numbers: R36 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Mowat-Wilson syndrome (Hirschsprung disease with bilateral iris and retinal coloboma and high myopia), 235730 |