Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
R-numbers: R31 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Dentici-Novelli neurodevelopmental syndrome, OMIM:619877 |
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Intellectual disability, Microcephaly, Cataracts, Epilepsy, Hypertonia, Dystonia |
Green in Severe microcephalyR-numbers: R88 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Intellectual disability, Microcephaly, Cataracts, Epilepsy, Hypertonia, Dystonia |