pyridoxine-dependent epilepsy caused by ALDH7A1 mutant
MONDO:0020741Mondo
Findings
No curated finding names pyridoxine-dependent epilepsy caused by ALDH7A1 mutant 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
- Neonatal onset
HPO, annotations 2026-09-02
Features
15 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.
- Bilateral tonic-clonic seizureHPOHP:0002069
- 6 of 6 reported patients
- Clonic seizureHPOHP:0020221
- 6 of 6 reported patients
- Elevated circulating pipecolic acid concentrationHPOHP:6000268
- 2 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 5 of 6 reported patients
- EEG with burst suppressionHPOHP:0010851
- 4 of 5 reported patients
- Neonatal respiratory distressHPOHP:0002643
- 4 of 5 reported patients · Neonatal onset
- Prenatal movement abnormalityHPOHP:0001557
- 3 of 4 reported patients
- HypotoniaHPOHP:0001252
- 3 of 5 reported patients
- StrabismusHPOHP:0000486
- 1 of 2 reported patients
- HydrocephalusHPOHP:0000238
- 2 of 5 reported patients
- Status epilepticusHPOHP:0002133
- 2 of 8 reported patients
- Elevated circulating alpha-aminoadipic semialdehyde concentrationHPOHP:0034365
Show the remaining 3
- Generalized myoclonic seizureHPOHP:0002123
- Global developmental delayHPOHP:0001263
- Intellectual disabilityHPOHP:0001249
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.
- ALDH7A1HGNC:877
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of