Sifrim-Hitz-Weiss syndrome

Sifrim-Hitz-Weiss syndrome is characterized by developmental delay, intellectual disability, hearing loss, macrocephaly, distinct facial dysmorphisms, palatal abnormalities, ventriculomegaly, and hypogonadism as well as additional findings such as bone fusions. It has been reported that de novo mutations in CHD4 cause this disease. CHD4 is a core component of the NuRD complex, which possesses both chromatin remodeling and histone deacetylation activities.