autosomal recessive

When two copies of a pathogenic variant (one copy from each parent) must be present to express the condition/disease. Individuals with only one pathogenic variant are called carriers and typically do not show symptoms of the condition. However, if two carriers of the same pathogenic variant have children, there is a 25% chance with each pregnancy that the child will inherit the condition, a 50% chance the child will be a carrier like both parents and a 25% chance that the child will not be a carrier or have the condition.