Conditions / Nervous system
hyperekplexia 3
info · Nervous system · ICD-10: G25.8
A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15.
Signs and symptoms
- Exaggerated startle response
- Hypertonia
- Muscle stiffness
- Bilateral tonic-clonic seizure
- Meconium stained amniotic fluid
- Hiatus hernia
- Global developmental delay
- Gastroesophageal reflux
- Ventouse delivery
- Syncope
Also known as: HKPX3