hyperekplexia 2
MONDO:0013828Mondo
Findings
No curated finding names hyperekplexia 2 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 GLRB gene.
Definition from the Mondo Disease Ontology (MONDO:0013828), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · 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
- 1 of 1 reported patient
- Gastroesophageal refluxHPOHP:0002020
- 1 of 1 reported patient
- Hiatus herniaHPOHP:0002036
- 1 of 1 reported patient
- HyperreflexiaHPOHP:0001347
- 1 of 1 reported patient
- HypertoniaHPOHP:0001276
- 1 of 1 reported patient
- Increased fetal movementHPOHP:0010519
- 9 of 9 reported patients · Fetal onset
- Motor delayHPOHP:0001270
Show the remaining 2
- AstigmatismHPOHP:0000483
- MyopiaHPOHP:0000545
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.
- GLRBHGNC:4329
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · G2P · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: hyperekplexia 2
- Also called
- GLRB hereditary hyperekplexiahereditary hyperekplexia caused by mutation in GLRBHKPX2hyperekplexia type 2