Panel | Mode of inheritance | Details |
---|---|---|
10 panels | ||
Component of the following Super Panels:
Signed-off version 2.23 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Niemann-Pick disease type C2, 607625 |
R-numbers: R57 Signed-off version 1.137 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Niemann-pick disease, type C2, 607625 |
Green in CholestasisR-numbers: R171 Signed-off version 1.21 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neonatal and Adult Cholestasis, Niemann-Pick disease type C2, 607625 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes NIEMANN-PICK DISEASE, TYPE C2 607625 |
Green in Fetal anomaliesR-numbers: R21 Signed-off version 1.92 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes NIEMANN-PICK DISEASE, TYPE C2 |
Green in Hereditary ataxia - adult onsetR-numbers: R54 Signed-off version 2.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Niemann-Pick disease type C2 (#607625), Niemann-Pick disease type C2, 607625 |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 2.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Niemann-Pick disease type C2, 607625 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes NIEMANN-PICK DISEASE, TYPE C2 |
Green in Lysosomal storage disorderR-numbers: R276 Signed-off version 1.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Niemann-pick disease, type C2 607625 |
R-numbers: R58 Signed-off version 2.178 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Dystonia, Niemann-Pick disease, type C2, OMIM:607625 |