hyperekplexia 3
MONDO:0013827Mondo
Findings
No curated finding names hyperekplexia 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene.
Definition from the Mondo Disease Ontology (MONDO:0013827), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
14 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.
- Exaggerated startle responseHPOHP:0002267
- 6 of 6 reported patients
- HypertoniaHPOHP:0001276
- 4 of 6 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 2 of 6 reported patients
- Meconium stained amniotic fluidHPOHP:0012420
- 2 of 6 reported patients
- ApneaHPOHP:0002104
- 1 of 6 reported patients · Neonatal onset
- Brisk reflexesHPOHP:0001348
- 1 of 6 reported patients
- Gastroesophageal refluxHPO
Show the remaining 2
- Ventouse deliveryHPOHP:0011412
- 1 of 6 reported patients
- Muscle stiffnessHPOHP:0003552
Genes
1 gene
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.
- SLC6A5HGNC:11051
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Ambry Genetics · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: hyperekplexia 3
- Also called
- hereditary hyperekplexia caused by mutation in SLC6A5HKPX3hyperekplexia type 3SLC6A5 hereditary hyperekplexia