Panel | Mode of inheritance | Details |
---|---|---|
11 panels | ||
Component of the following Super Panels:
Signed-off version 2.23 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Metachromatic leukodystrophy (#250100) |
R-numbers: R57 Signed-off version 1.137 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Metachromatic leukodystrophy, 250100 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ARYLSULFATASE A DEFICIENCY 250100 |
Green in Fetal anomaliesR-numbers: R21 Signed-off version 1.92 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ARYLSULFATASE A DEFICIENCY |
Green in Hereditary ataxia - adult onsetR-numbers: R54 Signed-off version 2.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Metachromatic leukodystrophy (#250100), Metachromatic Leukodystrophy, 250100 |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 2.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Metachromatic leukodystrophy |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ARYLSULFATASE A DEFICIENCY |
Green in Lysosomal storage disorderR-numbers: R276 Signed-off version 1.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Metachromatic leukodystrophy 250100 |
R-numbers: R58 Signed-off version 2.178 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Metachromatic leukodystrophy, OMIM:250100, Dystonia |
Green in White matter disorders - adult onsetR-numbers: R62 Signed-off version 1.25 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Metachromatic leukodystrophy, 250100 |
Component of the following Super Panels:
Signed-off version 1.12 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Metachromatic leukodystrophy, 250100, Arylsulfatase A Deficiency |