SMG9

Clinical Characteristics

Neurologic:

  • Dandy-Walker malformation
  • Cerebellar vermis hypoplasia
  • Hypoplastic corpus callosum
  • Brain atrophy
  • Truncal hypotonia
  • Peripheral hypertonia and hyperreflexia

Cardiovascular:

  • Ventricular septal defect
  • Valvular hypoplasia

Head and Neck:

  • Various craniofacial malformations, including microphthalmia, hypertelorism, broad or depressed nasal bridge, cleft lip, and cleft palate

Skeletal:

  •  Hand and foot malformations, including syndactyly and camptodactyly