DOCK6

Clinical Characteristics

Mutations in DOCK6 gene may cause the following signs and symptoms:

  • Localized areas of missing skin usually on top of the head (aplasia cutis congenita)
  • Abnormalities of the hands and feet
  • Smaller-than-normal head (microcephaly)
  • Unusual facial features
  • Abnormalities in the structure of the brain
  • Weak muscle tone (hypotonia)
  • Seizures
  • Vision problems