Conditions / Nervous system
hyperekplexia 2
info · Nervous system · ICD-10: G25.8
A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32.
Signs and symptoms
- Hypertonia
- Hiatus hernia
- Exaggerated startle response
- Increased fetal movement
- Muscle stiffness
- Gastroesophageal reflux
- Motor delay
- Myoclonus
- Hyperreflexia
- Esotropia
Also known as: HKPX2