Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Component of the following Super Panels:
Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Cortical dysplasia, complex, with other brain malformations 1 614039 |
R-numbers: R46 Signed-off version 1.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes CFEOM3A, Fibrosis of extraocular muscles, congenital, 3A 600638 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 2.1 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES |
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Cortical dysplasia, complex, with other brain malformations 1, 614039 |
Green in Hereditary ataxia - adult onsetR-numbers: R54 Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Complex cortical dysplasia with other brain abnormalities 1, 614039 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 4.4 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES |
Component of the following Super Panels:
Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Cortical dysplasia, complex, with other brain malformations 1 614039 |