epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
Findings
No curated finding names epilepsy, X-linked 1, with variable learning disabilities and behavior disorders yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behavior. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).
Definition from the Mondo Disease Ontology (MONDO:0010339), read 2026-09-29. CC BY 4.0.
Features
4 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.
- Aggressive behaviorHPOHP:0000718
- Very frequent (80% to 99% of cases)
- MacrocephalyHPOHP:0000256
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Specific learning disabilityHPOHP:0001328
- Very frequent (80% to 99% of cases)
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.
- SYN1HGNC:11494
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · G2P · X-linked · 2015
- Moderate · Ambry Genetics · X-linked · 2018
- Moderate · Laboratory for Molecular Medicine · X-linked · 2020
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
3 names
Resolves to: epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
- Also called
- epilepsy, X-linked, with variable learning disabilities and behavior disorders, X-linked recessive, X-linked dominantepilepsy, X-linked, with variable learning disabilities and behaviour disorders, X-linked recessive, X-linked dominantX-linked epilepsy-learning disabilities-behavior disorders syndrome