A rare developmental disorder that occurs in 1 in 50,000-70,000 births. The most severe cases are characterized by intellectual disability, delayed motor development, EPILEPSY, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. De novo autosomal dominant mutations in the ZEB2 gene have been identified. OMIM: 235730
Also Known As:
Hirschsprung Disease-Mental Retardation Syndrome; Hirschsprung disease mental retardation syndrome; Microcephaly, Mental Retardation, and Distinct Facial Features, with Or without Hirschsprung Disease