Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in Amelogenesis imperfectaR-numbers: R340 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Kohlschutter-Tonz syndrome, 226750, Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth) |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes KOHLSCHTTER-TNZ SYNDROME 226750 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Kohlschutter-Tonz syndrome 226750 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes KOHLSCHAYTTER-TANZ SYNDROME |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Kohlschutter-Tonz syndrome, 226750, KOHLSCH TTER-T _NZ SYNDROME |