Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ribose 5-phosphate isomerase deficiency, OMIM:608611 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ribose-5-phosphate isomerase deficiency (Disorders of pentose metabolism), Ribose 5-phosphate isomerase deficiency, OMIM:608611 |
Component of the following Super Panels:
Signed-off version 3.24 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ribose 5-phosphate isomerase deficiency, OMIM:608611 |