Kleefstra syndrome 1
Findings
No curated finding names Kleefstra syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3.
Definition from the Mondo Disease Ontology (MONDO:0027407), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Sporadic
HPO, annotations 2026-09-02
Features
84 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
- 7 of 7 reported patients
- Focal-onset seizureHPOHP:0007359
- 3 of 3 reported patients
- Generalized-onset seizureHPOHP:0002197
- 3 of 3 reported patients
- HypermetropiaHPOHP:0000540
- 41 of 41 reported patients
- SeizureHPOHP:0001250
- 18 of 18 reported patients
- Recurrent infectionsHPOHP:0002719
- 52 of 56 reported patients
- Global developmental delayHPOHP:0001263
Show the remaining 72
- Coarse facial featuresHPOHP:0000280
- Frequent (30% to 79% of cases) · Juvenile onset
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Everted lower lip vermilionHPOHP:0000232
- Frequent (30% to 79% of cases) · Childhood onset
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases) · Childhood onset
- MacroglossiaHPOHP:0000158
- Frequent (30% to 79% of cases) · Childhood onset
- Malar flatteningHPOHP:0000272
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.
- EHMT1HGNC:24650
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Definitive · G2P · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
- Narrower terms (1)