Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
R-numbers: R58 Signed-off version 5.4 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Amyotrophic lateral sclerosis 19 OMIM:615515, amyotrophic lateral sclerosis type 19 MONDO:0014223 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 6.13 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes intellectual disability MONDO:0001071 |