Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ACROCEPHALOPOLYSYNDACTYLY TYPE 2 201000 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ACROCEPHALOPOLYSYNDACTYLY TYPE 2 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ACROCEPHALOPOLYSYNDACTYLY TYPE 2 |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Carpenter syndrome 201000, Polydactyly, ACROCEPHALOPOLYSYNDACTYLY TYPE 2 |
R-numbers: R100 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Carpenter syndrome 201000, 201000 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Carpenter syndrome 201000 |