Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in Corneal dystrophiesR-numbers: R262 Signed-off version 2.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Brittle cornea syndrome 614170 |
Green in Ehlers Danlos syndromesR-numbers: R101 Signed-off version 2.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Brittle cornea syndrome 2, 614170, BCS, EDSVIB, Connective Tissue Disorders, Ehlers-Danlos syndrome type VIB, Brittle cornea syndrome |