Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes FRAGILE X-E MENTAL RETARDATION SYNDROME 309548 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Mental retardation, X-linked, FRAXE type, 309548, FRAXE Syndrome, FRAGILE X-E MENTAL RETARDATION SYNDROME (FRAXE) |