Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
R-numbers: R56 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Mental retardation, autosomal dominant 35 OMIM:616355, intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome MONDO:0014602 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes INTELLECTUAL DISABILITY |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes INTELLECTUAL DISABILITY |
Green in HydrocephalusR-numbers: R86 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Mental retardation, autosomal dominant 35, OMIM:616355 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes INTELLECTUAL DISABILITY |