Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE 300260, MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13 300055, CHROMOSOME XQ28 DUPLICATION SYNDROME 300815, ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS 300673, RETT SYNDROME (RTT)[ 312750 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 4.134 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Encephalopathy, neonatal severe, Angelman syndrome, Mental retardation, X-linked syndromic, Lubs type, Mental retardation, X-linked, syndromic 13, Rett syndrome |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Rett syndrome, 312750Mental retardation, X-linked, syndromic 13, 300055Rett syndrome, preserved speech variant, 312750Encephalopathy, neonatal severe, 300673{Autism susceptibility, X-linked 3}, 300496Angelman syndrome, 105830Mental retardation, X-linked syndromic, Lubs type, 300260, RETT SYNDROME (RTT)[ |