Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in CholestasisR-numbers: R171 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Charcot-Marie-Tooth disease, dominant intermediate C 608323, Intellectual disability, deafness, nystagmus, liver dysfunction |
R-numbers: R78 Signed-off version 5.16 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Charcot Marie Tooth disease, dominant intermediate C, 608323 |