Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ataxia, Intellectual disability |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spinocerebellar ataxia, autosomal recessive 30, OMIM:619405 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes mental retardation, spinocerebellar ataxia, cognitive decline and psychosis |