Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.48 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 600195 |
R-numbers: R327 Signed-off version 2.49 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Venous malformations, multiple cutaneous and mucosal, OMIM:600195, Unifocal and multifocal sporadic venous malformations, Blue rubber bleb naevus |
Green in Structural eye diseaseR-numbers: R36 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Glaucoma 3, primary congenital, E, OMIM:617272 |
Green in Vascular skin disordersR-numbers: R326 Signed-off version 1.65 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Venous malformations, multiple cutaneous and mucosal, OMIM:600195 |