Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA 239850 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA |
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 and myopathy syndrome, OMIM:619719, intellectual disability and myopathy syndrome, MONDO:0859224 |
Component of the following Super Panels:
R-numbers: R135 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Dilated Cardiomyopathy, Dominant, Cardiomyopathy, dilated, 1O |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Hypertrichotic osteochondrodysplasia 23985 (Cantu syndrome), Hypertrichotic osteochondrodysplasia 239850 |