hereditary hyperekplexia
MONDO:0021022Mondo
Findings
No curated finding names hereditary hyperekplexia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.
Definition from the Mondo Disease Ontology (MONDO:0021022), read 2026-09-29. CC BY 4.0.
Features
21 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of movementHPOHP:0100022
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- EsophagitisHPOHP:0100633
- Very frequent (80% to 99% of cases)
- FasciculationsHPOHP:0002380
- Very frequent (80% to 99% of cases)
- Gastroesophageal refluxHPOHP:0002020
- Very frequent (80% to 99% of cases)
- Hiatus herniaHPOHP:0002036
- Very frequent (80% to 99% of cases)
- HyperreflexiaHPOHP:0001347
- Very frequent (80% to 99% of cases)
- HypertoniaHPOHP:0001276
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
- Muscle stiffnessHPOHP:0003552
- Very frequent (80% to 99% of cases)
- MyoclonusHPOHP:0001336
- Very frequent (80% to 99% of cases)
- RigidityHPOHP:0002063
- Very frequent (80% to 99% of cases)
Show the remaining 9
- SpasticityHPOHP:0001257
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- HerniaHPOHP:0100790
- Frequent (30% to 79% of cases)
- Sleep disturbanceHPOHP:0002360
- Frequent (30% to 79% of cases)
- Umbilical herniaHPOHP:0001537
- Frequent (30% to 79% of cases)
- Hip dislocationHPOHP:0002827
- Occasional (5% to 29% of cases)
Genes
5 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ATAD1HGNC:25903
- Supportive · Orphanet · Autosomal dominant · 2021
- GLRA1HGNC:4326
- Supportive · Orphanet · Autosomal dominant · 2021
- GLRBHGNC:4329
- Supportive · Orphanet · Autosomal dominant · 2021
- GPHNHGNC:15465
- Supportive · Orphanet · Autosomal dominant · 2021
- SLC6A5HGNC:11051
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: hereditary hyperekplexia
- Also called
- congenital stiff man syndromefamilial startle diseasehereditary hyperexplexiaKok diseaseStiff baby syndrome