THOC6

Clinical Characteristics

Individuals with THOC6 intellectual disability syndrome generally have developmental delay (delay in learning skills compared to other children), hypotonia (low muscle tone), delays in speech and  microcephaly (small head ). They can also have some teeth anomalies (caries, malocclusion, extra teeth), cardiac or renal malformations (such as absence of one kidney), hydrocephalus (enlargement of cerebral ventricles) and undescended testis for males.