Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in Ehlers Danlos syndromesR-numbers: R101 Signed-off version 2.3 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Ehlers-Danlos syndrome, classic type, 130000, Classical EDS, cEDS, Ehlers-Danlos syndrome vascular type I, Ehlers-Danlos syndrome type II, Ehlers-Danlos syndrome, Gravis type, Ehlers-Danlos syndrome, Mitis type |
R-numbers: R125 Signed-off version 2.1 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Ehlers-Danlos syndrome, classic type, OMIM:130000, Fibromuscular dysplasia, multifocal, OMIM:619329 |