Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 6.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital Muscular Dystrophy, LAMA2-related, Muscular dystrophy, congenital merosin-deficient, 607855 |
Component of the following Super Panels:
R-numbers: R432 Signed-off version 1.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient, OMIM:607855 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CONGENITAL MUSCULAR DYSTROPHY 607855 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CONGENITAL MUSCULAR DYSTROPHY |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 6.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Muscular dystrophy, congenital merosin-deficient, 607855Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855, CONGENITAL MUSCULAR DYSTROPHY |
Component of the following Super Panels:
R-numbers: R82 Signed-off version 4.33 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855, congenital muscular dystroph |
Component of the following Super Panels:
Signed-off version 5.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient OMIM:607855 |