Panel | Mode of inheritance | Details |
---|---|---|
6 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 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35, OMIM:300998 |
Green in Differences in sex developmentR-numbers: R146 Signed-off version 4.5 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Mental retardation, X-linked, syndromic, 35 300998 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Mental retardation, X-linked, syndromic, 35, OMIM:300998, Intellectual disability, X-linked, syndromic, 35, MONDO:0030908 |
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 Mental retardation, X-linked, syndromic, 35, 300998 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Mental retardation, X-linked, syndromic, 35 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 4.41 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Mental retardation, X-linked, syndromic, 35 300998 |