Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Abnormal muscle tone, Global developmental delay, Intellectual disability, Seizures, Microcephaly, Abnormality of movement, Abnormality of nervous system morphology, Short stature |
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Abnormal muscle tone, Global developmental delay, Intellectual disability, Seizures, Microcephaly, Abnormality of movement, Abnormality of nervous system morphology, Short stature |
Green in Severe microcephalyR-numbers: R88 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Abnormal muscle tone, Global developmental delay, Intellectual disability, Seizures, Microcephaly, Abnormality of movement, Abnormality of nervous system morphology, Short stature |