Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
R-numbers: R78 Signed-off version 2.1 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Hereditary motor and sensory neuropathy, Okinawa type, OMIM:604484, Spastic paraplegia 57, autosomal recessive, OMIM:615658 |
R-numbers: R61 Signed-off version 3.1 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Spastic paraplegia 57, autosomal recessive, OMIM:615658 |