Hyperekplexia 1
- Synonyms
- GLRA1-Related Hyperekplexia; GPHN-Related Hyperekplexia; HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT; HYPEREKPLEXIA 1, AUTOSOMAL RECESSIVE; Kok disease; Startle disease, familial; Startle reaction, exaggerated; Stiff-baby syndrome; Stiff-man syndrome, congenital; Stiff-person syndrome, congenital
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of the musculoskeletal system
- Frequent falls
Frequent falls
- MedGen UID: 163408
- Concept ID: C0850703
- Finding: Finding
Abnormality of the musculoskeletal system
- Hip dislocation
Hip dislocation
- MedGen UID: 42455
- Concept ID: C0019554
- Finding: Injury or Poisoning
Abnormality of the musculoskeletal system
- Hypertonia
Hypertonia
- MedGen UID: 10132
- Concept ID: C0026826
- Finding: Finding
Abnormality of the musculoskeletal system
- Inguinal hernia
Inguinal hernia
- MedGen UID: 6817
- Concept ID: C0019294
- Finding: Finding
Abnormality of the musculoskeletal system
- Umbilical hernia
Umbilical hernia
- MedGen UID: 9232
- Concept ID: C0019322
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Frequent falls
- Abnormality of the nervous system
- Exaggerated startle response
Exaggerated startle response
- MedGen UID: 329357
- Concept ID: C1740801
- Finding: Finding
Abnormality of the nervous system
- Hypokinesia
Hypokinesia
- MedGen UID: 39223
- Concept ID: C0086439
- Finding: Finding
Abnormality of the nervous system
- Myoclonus
Myoclonus
- MedGen UID: 10234
- Concept ID: C0027066
- Finding: Finding
Abnormality of the nervous system
- Nocturnal seizures
Nocturnal seizures
- MedGen UID: 581539
- Concept ID: C0393719
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Exaggerated startle response
- Abnormality of the respiratory system
- Apnea
Apnea
- MedGen UID: 2009
- Concept ID: C0003578
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Aspiration
Aspiration
- MedGen UID: 751786
- Concept ID: C2712334
- Finding: Finding
Abnormality of the respiratory system
- Apnea
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