Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 3.1 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Trichothiodystrophy 5, nonphotosensitive, OMIM:300953 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 4.4 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Trichothiodystrophy 5, nonphotosensitive, OMIM:300953 |