seizures-intellectual disability due to hydroxylysinuria syndrome
MONDO:0009373Mondo
Findings
No curated finding names seizures-intellectual disability due to hydroxylysinuria syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Seizures-intellectual disability due to hydroxylysinuria syndrome is characterized by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient.
Definition from the Mondo Disease Ontology (MONDO:0009373), read 2026-09-29. CC BY 4.0.
Features
3 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.
- AminoaciduriaHPOHP:0003355
- Very frequent (80% to 99% of cases)
- Generalized myoclonic seizureHPOHP:0002123
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)