Meckel syndrome 4

A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32.

Signs and symptoms

• Hypoplasia of the corpus callosum
• Postaxial hand polydactyly
• Encephalocele
• Ventricular septal defect
• Bile duct proliferation
• Renal cyst
• Dandy-Walker malformation
• Intrauterine growth retardation
• Atrial septal defect
• Agenesis of cerebellar vermis

Also known as: MKS4; Meckel-Gruber syndrome, type 4