Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
R-numbers: R31 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368 |
R-numbers: R237 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Rothmund-Thomson Syndrome Type 1 |
Green in Ectodermal dysplasiaR-numbers: R163 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Rothmund-Thomson Syndrome Type 1 |
Green in Growth failure in early childhoodR-numbers: R147 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368 |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368 |