THOC6 intellectual disability syndrome is associated with moderate-to-severe developmental delay or intellectual disability, nonspecific dysmorphic facial features, microcephaly, teeth anomalies, cardiac anomalies, prenatal ventriculomegaly and hydrocephalus, cryptorchidism 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 molecularly confirmed THOC6 intellectual disability syndrome have been reported in the literature.
THOC6