Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pontocerebellar hypoplasia, type 8, 614961 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes PONTOCEREBELLAR HYPOPLASIA AND MICROCEPHALY 614961 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pontocerebellar hypoplasia, type 8, OMIM:614961, Pontocerebellar hypoplasia type 8, MONDO:0013990 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pontocerebellar hypoplasia, type 8 614961 |