Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Mental retardation, X-linked syndromic, Raymond type, OMIM:300799 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 5.10 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes epilepsy, intellectual disability, Mental retardation, X-linked syndromic, Raymond type, OMIM:300799 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 6.13 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Mental retardation, X-linked syndromic, Raymond type, OMIM:300799 |