Conditions / Syndrome

Meckel syndrome 10

info ยท Syndrome

A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D2 gene on chromosome 19q13.

Signs and symptoms

  • Occipital encephalocele
  • Ulnar deviation of the hand
  • Dandy-Walker malformation
  • Micropenis
  • Cerebellar hypoplasia
  • Postaxial hand polydactyly
  • Dilated fourth ventricle
  • Bifid uvula
  • Postaxial polydactyly
  • Camptodactyly