Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Neurodevelopmental Disorder |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.9 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Neurodevelopmental disorder with severe motor impairment and absent language 617804 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.51 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes microcephaly, developmental delay intellectual disability, mild cerebral volume loss, hypotonia, seizures, short stature, failure to thrive, and generalized hirsutism |