Panel | Mode of inheritance | Details |
---|---|---|
11 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 5.21 | 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 4.40 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type |
Component of the following Super Panels:
Signed-off version 4.13 | 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 4.15 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, OMIM:614830 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes WALKER WARBERG SYNDROME 614830 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes WALKER WARBERG SYNDROME |
Green in HydrocephalusR-numbers: R86 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, OMIM:614830 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 |
Component of the following Super Panels:
R-numbers: R82 Signed-off version 4.24 | 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 4.12 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830 |