Conditions / Nervous system
hyperekplexia 1
info · Nervous system · ICD-10: G25.8
A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.
Signs and symptoms
- Hypertonia
- Exaggerated startle response
- Hypokinesia
- Inguinal hernia
- Seizure
- Nocturnal seizures
- Hip dislocation
- Umbilical hernia
- Aspiration
- Frequent falls
Also known as: HKPX1