| Panel | Mode of inheritance | Details |
|---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME 238970 |
Component of the following Super Panels:
Signed-off version 6.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970 |
R-numbers: R61 Signed-off version 9.7 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970 |
Green in Intellectual disabilityComponent of the following Super Panels:
Signed-off version 11.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 9.29 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970, HHH syndrome (Urea cycle disorders and inherited hyperammonaemias) |