Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
R-numbers: R60 Signed-off version 3.14 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes developmental delay, seizures, Spastic paraplegia 52, autosomal recessive, 614067 |
R-numbers: R61 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes developmental delay, seizures, Spastic paraplegia 52, autosomal recessive, 614067 |
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic paraplegia 52, autosomal recessive, 614067, CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6 |