Clinical Characteristics

What health implications may be associated with a change in both copies of the HERC1 gene?

A change occurring in both copies of the HERC1 gene has been linked to:

  • Abnormally large head (macrocephaly) and facial appearance different from other family members.
  • Slight looseness of body and limbs (hypotonia).
  • Delayed attainment of developmental milestones in infancy and early childhood.
  • Poor or absent language development.
  • Inability to perform in school and play with peers.
  • Limited ability for self care and activities of daily living.
  • Seizures (epilepsy) reported in some patients.
  • Brain abnormalities on MRI.
  • Mild behavioral problems like hyperactivity, poor social interaction.
  • Abnormal shape of spine, large hands and feet, long fingers.