NECAP1

Clinical Characteristics

Mutations in NECAP1 may cause the following health conditions:

  • Intractable (uncontrolled or drug-resistant) seizures
  • Profound global developmental delay
  • Persistent, abnormally low muscle tone affecting the musculature of the trunk (axial hypotonia)
  • Abnormally high muscle tone affecting the musculature of the arms and legs (appendicular hypertonia)
  • Lack of head control
  • Brain atrophy on MRI imaging
  • Poor feeding
  • Decreased fetal movements