Molecular Characteristics for Families

Pathogenic variants associated to ADGRB3-related disease are loss-of-function mutations inherited in an autosomal recessive manner, i.e. both copies of the gene should be mutated. The recurrence risk for future pregnancies is ¼ and prenatal testing could be offered to heterozygous partners. The prevalence of the disease is unknown but probably extremely low, especially in populations with a low rate of consanguinity. Heterozygous individuals with loss-of-function variants in the ADGRB3 gene may show variable neuropsychiatric symptoms.