Families

The disease caused by a disruption of the gene CCDC186 is not well understood as to date only very few individuals have been published. Thus, it is an ultra-rare condition with limited evidence for treatment and surveillance as well as for estimation of the prognosis. It is caused by genetic variants inherited by both unaffected parents (who have a second, normal copy of CCDC186) to a child who receives both dysfunctional copies of CCDC186. After normal birth and postnatal development individuals present with delayed motor and cognitive development as well as seizures. The latter can be difficult to treat. Additional symptoms include poor growth and feeding difficulties.