Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.48 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes TOGARAM1-related ciliopathy |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.80 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 37, OMIM:619185 |
Green in Neurological ciliopathiesComponent of the following Super Panels:
Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 37, OMIM:619185, Joubert syndrome 37, MONDO:0030933 |