Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
R-numbers: R78 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Charcot Marie Tooth disease, type 4B2, 604563 |
Green in Structural eye diseaseR-numbers: R36 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Charcot-Marie-Tooth disease, type 4B2 604563, CMT with early onset glaucoma |