Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes BOSLEY-SALIH-ALORAINY SYNDROME 601536, ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME 601536 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes BOSLEY-SALIH-ALORAINY SYNDROME, ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Bosley-Salih-Alorainy syndrome, 601536Athabaskan brainstem dysgenesis syndrome, 601536, BOSLEY-SALIH-ALORAINY SYNDROME (BSAS) |