Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Component of the following Super Panels:
Signed-off version 2.23 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pontocerebellar Hypoplasia, Pontocerebellar hypoplasia type 2D (613811), Pontocerebellar hypoplasia type 2D, 613811, Pontocerebellar Hypoplasia type 2D |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pontocerebellar hypoplasia type 2D |
Green in Fetal anomaliesR-numbers: R21 Signed-off version 1.92 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pontocerebellar hypoplasia type 2D |
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pontocerebellar hypoplasia type 2D 613811 |
Green in Hereditary ataxia - adult onsetR-numbers: R54 Signed-off version 2.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pontocerebellar hypoplasia type 2D, 613811, Pontocerebellar hypoplasia type 2D (613811) |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pontocerebellar hypoplasia type 2D, 613811 |