Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SLC4A10-related neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 9.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746 |