Parents

THOC6 intellectual disability syndrome is associated with moderate-to-severe developmental delay or intellectual disability, distinctive facial features, microcephaly, teeth anomalies, cardiac anomalies, prenatal enlargement of the ventricles and hydrocephalus, cryptorchidism (undescended testis) in males, and renal malformations. THOC6 intellectual disability syndrome is inherited in an autosomal recessive manner. The prevalence is not known; to date, approximately 20 individuals with a confirmed THOC6 intellectual disability syndrome have been reported in the medical literature.