Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
R-numbers: R31 Signed-off version 5.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Dentici-Novelli neurodevelopmental syndrome, OMIM:619877 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.195 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Dentici-Novelli neurodevelopmental syndrome, OMIM:619877 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.51 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Intellectual disability, Microcephaly, Cataracts, Epilepsy, Hypertonia, Dystonia |
Green in Severe microcephalyR-numbers: R88 Signed-off version 6.8 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Intellectual disability, Microcephaly, Cataracts, Epilepsy, Hypertonia, Dystonia |