Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MEDNIK syndrome, 609313, MEDNIK syndrome, mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratoderma syndrome |
R-numbers: R331 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Non-syndromic congenital intestinal failure, MEDNIK syndrome, OMIM:609313 |
Green in Monogenic hearing lossComponent of the following Super Panels:
R-numbers: R67 Signed-off version 4.50 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Non-syndromic congenital intestinal failure, MEDNIK syndrome, OMIM:609313 |
Green in Palmoplantar keratodermasR-numbers: R166 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MEDNIK syndrome |