Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in Congenital myopathyComponent of the following Super Panels:
R-numbers: R81 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, MONDO:0014689 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549 |