Panel | Mode of inheritance | Details |
---|---|---|
11 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type, Walker-Warburg syndrome |
Component of the following Super Panels:
Signed-off version 2.23 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type |
Component of the following Super Panels:
Signed-off version 2.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830 |
Green in Congenital muscular dystrophyComponent of the following Super Panels:
R-numbers: R79 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type, Walker-Warburg syndrome |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes WALKER WARBERG SYNDROME 614830 |
Green in Fetal anomaliesR-numbers: R21 Signed-off version 1.92 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes WALKER WARBERG SYNDROME |
Green in HydrocephalusR-numbers: R86 Signed-off version 2.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830 |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 2.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes |
Green in Limb girdle muscular dystrophyComponent of the following Super Panels:
R-numbers: R82 Signed-off version 2.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830, limb girdle muscular dystrophy |
Component of the following Super Panels:
Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830 |