epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features
MONDO:0859564Mondo
Findings
No curated finding names epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked inheritance
- Onset and course
- Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
24 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.
- Intellectual disabilityHPOHP:0001249
- 16 of 25 reported patients
- MicrognathiaHPOHP:0000347
- 8 of 15 reported patients
- NystagmusHPOHP:0000639
- 6 of 15 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 8 of 22 reported patients
- Narrow mouthHPOHP:0000160
- 5 of 15 reported patients
- Down-sloping shoulderHPOHP:0200021
- 4 of 15 reported patients
- Cleft palateHPOHP:0000175
- 3 of 15 reported patients
- High palateHPOHP:0000218
- 3 of 15 reported patients
- Generalized non-motor (absence) seizureHPOHP:0002121
- 4 of 22 reported patients
- Long fingersHPOHP:0100807
- 2 of 15 reported patients
- RetrognathiaHPOHP:0000278
- 2 of 15 reported patients
- Short neckHPOHP:0000470
- 2 of 15 reported patients
Show the remaining 12
- Low-set earsHPOHP:0000369
- 3 of 30 reported patients
- Epileptic spasmHPOHP:0011097
- 2 of 22 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 2 of 22 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 25 reported patients
- 2-3 toe cutaneous syndactylyHPOHP:0005709
- 1 of 15 reported patients
- Long neckHPOHP:0000472
- 1 of 15 reported patients
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.
- GABRA3HGNC:4077
- Definitive · Illumina · X-linked · 2021
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025