Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes PCDHGC4-related neurodevelopmental disorder with microcephaly and seizures |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.9 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with poor growth and skeletal anomalies, OMIM:619880 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.51 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with poor growth and skeletal anomalies, OMIM:619880 |