| Panel | Mode of inheritance | Details |
|---|---|---|
4 panels | ||
R-numbers: R31 Signed-off version 8.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Dentici-Novelli neurodevelopmental syndrome, OMIM:619877 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Dentici-Novelli neurodevelopmental syndrome, OMIM:619877 |
Green in Intellectual disabilityComponent of the following Super Panels:
Signed-off version 11.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Intellectual disability, Microcephaly, Cataracts, Epilepsy, Hypertonia, Dystonia |
Green in Severe microcephalyR-numbers: R88 Signed-off version 9.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Intellectual disability, Microcephaly, Cataracts, Epilepsy, Hypertonia, Dystonia |