Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 5.21 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spinal muscular atrophy with congenital bone fractures 2, 616867, Spinal muscular atrophy, arthrogryposis, fetal akinesia, hypotonia, contractures |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes spinal muscular atrophy, arthrogryposis, fetal akinesia, hypotonia, contractures |
Component of the following Super Panels:
Signed-off version 3.7 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures, spinal muscular atrophy, arthrogryposis, fetal akinesia, hypotonia, contractures |