Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
R-numbers: R31 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Aplasia cutis-enamel dysplasia syndrome, OMIM:620789 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes FOSL2-related neurodevelopmental disorder with scalp and enamel defects |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Aplasia cutis-enamel dysplasia syndrome, OMIM:620789 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 9.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Aplasia cutis-enamel dysplasia syndrome, OMIM:620789 |