Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
R-numbers: R327 Signed-off version 2.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Blaschko-linear hypopigmentation syndrome |
Green in Structural eye diseaseR-numbers: R36 Signed-off version 3.79 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, MONDO:0032884, Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, OMIM:618727 |