Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes OTUD5-associated neurodevelopmental disorder |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056 |
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 Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056 |
Component of the following Super Panels:
Signed-off version 5.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056 |