Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 603387 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME |
Green in HydrocephalusR-numbers: R86 Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, OMIM:615938 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 6.13 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 5.4 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Polydactyly, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938 |
Component of the following Super Panels:
Signed-off version 5.4 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938 |
Green in Neurological segmental overgrowthComponent of the following Super Panels:
Signed-off version 2.13 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, OMIM:615938 |
R-numbers: R110 Signed-off version 3.3 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938, MPPH3, Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 5.7 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Microcephaly, MONDO:0001149 |