Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
R-numbers: R60 Signed-off version 3.21 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes developmental delay, seizures, Spastic paraplegia 52, autosomal recessive, 614067 |
R-numbers: R61 Signed-off version 4.28 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes developmental delay, seizures, Spastic paraplegia 52, autosomal recessive, 614067 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6 614067 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic paraplegia 52, autosomal recessive, 614067, CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6 |