Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
Green in Adult onset leukodystrophyR-numbers: R62 Signed-off version 3.23 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Peroxisome biogenesis disorder 14B, 614920 |
Green in ArthrogryposisR-numbers: R83 Signed-off version 5.21 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peroxisome biogenesis disorder 14B 614920 |
R-numbers: R31 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peroxisome biogenesis disorder |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peroxisome biogenesis disorder 14B |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peroxisome biogenesis disorder 14B |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peroxisome biogenesis disorder 14B, 614920, Intellectual disability |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peroxisome biogenesis disorder 14B |
Component of the following Super Panels:
Signed-off version 4.12 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peroxisome biogenesis disorder 14B, 614920 |