Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Green in Congenital muscular dystrophyComponent of the following Super Panels:
R-numbers: R79 Signed-off version 4.24 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Myopathy with extrapyramidal signs, 615673 |
Green in Congenital myopathyComponent of the following Super Panels:
R-numbers: R81 Signed-off version 4.38 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Myopathy with extrapyramidal signs, OMIM:615673 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MYOPATHY WITH EXTRAPYRAMIDAL SIGNS 615673 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MYOPATHY WITH EXTRAPYRAMIDAL SIGNS |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Myopathy with extrapyramidal signs 615673 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Myopathy with extrapyramidal signs 615673 |
R-numbers: R63 Signed-off version 3.105 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Myopathy with extrapyramidal signs, 615673 |