Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.9 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.51 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 6.8 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801 |