Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
R-numbers: R31 Signed-off version 4.14 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730, Hemorrhagic destruction of the brain, subependymal calcification, and cataracts |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS 613730 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 6.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS |
Component of the following Super Panels:
Signed-off version 4.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 |