Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
R-numbers: R60 Signed-off version 3.21 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic paraplegia 51, autosomal recessive, OMIM:613744, Hereditary spastic paraplegia 51, MONDO:0013401 |
R-numbers: R61 Signed-off version 4.28 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic paraplegia 51, autosomal recessive, OMIM:613744, Hereditary spastic paraplegia 51, MONDO:0013401 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4 613744 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic paraplegia 51, autosomal recessive, OMIM:613744, Hereditary spastic paraplegia 51, MONDO:0013401 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic paraplegia 51, autosomal recessive, OMIM:613744, Hereditary spastic paraplegia 51, MONDO:0013401 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 4.41 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic paraplegia 51, autosomal recessive, OMIM:613744, Hereditary spastic paraplegia 51, MONDO:0013401 |