Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
R-numbers: R57 Signed-off version 5.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Dystonia-Parkinsonism, X-linked, 314250 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Dysmorphic Features, Intellectual Disability, and Neurological Manifestations |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Dysmorphic Features, Intellectual Disability, and Neurological Manifestations |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Mental retardation, X-linked, syndromic 33, 300966, global developmental delay, intellectual disability |