hyperekplexia 4
MONDO:0044330Mondo
Findings
No curated finding names hyperekplexia 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Progressive
HPO, annotations 2026-09-02
Features
8 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.
- HypertoniaHPOHP:0001276
- 2 of 2 reported patients
- Inguinal herniaHPOHP:0000023
- 2 of 2 reported patients
- Respiratory failureHPOHP:0002878
- 2 of 2 reported patients
- SeizureHPOHP:0001250
- 2 of 2 reported patients
- HyperreflexiaHPOHP:0001347
- 1 of 2 reported patients
- HypsarrhythmiaHPOHP:0002521
- 1 of 2 reported patients
- Abnormal circulating fatty acylcarnitine concentrationHPOHP:0012071
- 0 of 1 reported patient
- Infantile spasmsHPOHP:0012469
- 0 of 1 reported patient
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.
- ATAD1HGNC:25903
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
- A kind of