Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 33, OMIM:617767, Joubert syndrome 33, MONDO:0033311 |
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 33, OMIM #617767 |
Green in Neurological ciliopathiesComponent of the following Super Panels:
Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 33, OMIM:617767, ataxia, vermis hypoplasia, developmental delay, thick superior cerebellar peduncles, superior cerebellar dysplasia |