Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of movement
Very frequent (80-99%)HP:0100022
Ataxia
Very frequent (80-99%)HP:0001251
Esophagitis
Very frequent (80-99%)HP:0100633
Gastroesophageal reflux disease
Very frequent (80-99%)HP:0002020
Increased reflexes
Very frequent (80-99%)HP:0001347
Involuntary muscle stiffness, contraction, or spasm
Very frequent (80-99%)HP:0001257
Jerking
Very frequent (80-99%)HP:0001336
Muscle fasciculation
Very frequent (80-99%)HP:0002380
Muscle rigidity
Very frequent (80-99%)HP:0002063
Muscle stiffness
Very frequent (80-99%)HP:0003552
Spasticity and rigidity of muscles
Very frequent (80-99%)HP:0001276
Stiff joint
Very frequent (80-99%)HP:0001387
Stomach hernia
Very frequent (80-99%)HP:0002036
Gait disturbance
Frequent (30-79%)HP:0001288
Hernia
Frequent (30-79%)HP:0100790
Trouble sleeping
Frequent (30-79%)HP:0002360
Umbilical hernia
Frequent (30-79%)HP:0001537
Dislocated femoral heads
Occasional (5-29%)HP:0002827
Joint dislocation
Occasional (5-29%)HP:0001373
Mental-retardation
Occasional (5-29%)HP:0001249
Seizures
Occasional (5-29%)HP:0001250
Apnea
HP:0002104
Decreased muscle movement
HP:0002375
Exaggerated startle response
HP:0002267
Frequent falls
HP:0002359
Inguinal hernia
HP:0000023
Nocturnal seizures
HP:0031951
Pulmonary aspiration
HP:0002835
Quick Facts
- SNOMED CT
- 724351008
- UMLS CUI
- C4084968
- Fully Specified Name
- Hereditary hyperekplexia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 28
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.