Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Component of the following Super Panels:
Signed-off version 2.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 615398 |
Green in Fetal anomaliesR-numbers: R21 Signed-off version 1.92 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 |
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 2.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398 |