Prenatal skeletal abnormalities

Large panel (#183): prenatal skeletal abnormalities

The panel for prenatal skeletal abnormalities comprises approximately 900 genes. It is useful to analyse only those in which mutations are known to result in clinical symptoms that correspond to the respective foetal ultrasound abnormality (this is known as phenotype-based analysis). An individual (virtual) gene panel for the phenotype-based analysis is generated using the HPO terms you specified.