Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Component of the following Super Panels:
Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pontocerebellar hypoplasia, type 7 614969 |
Green in Disorders of sex developmentR-numbers: R146 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pontocerebellar hypoplasia, type 7 614969 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pontocerebellar hypoplasia, type 7, OMIM:614969, Pontocerebellar hypoplasia type 7, MONDO:0013993 |
R-numbers: R54 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pontocerebellar hypoplasia 7, 614969 |
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pontocerebellar hypoplasia, type 7 614969 |