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.