Kleefstra syndrome 2
MONDO:0054701Mondo
Findings
No curated finding names Kleefstra syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Typically de novo
HPO, annotations 2026-09-02
Features
11 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.
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- Intellectual disabilityHPOHP:0001249
- 6 of 6 reported patients
- Midface retrusionHPOHP:0011800
- 2 of 3 reported patients
- Autistic behaviorHPOHP:0000729
- 3 of 6 reported patients
- HypotoniaHPOHP:0001252
- 3 of 6 reported patients · Childhood onset
- KyphosisHPOHP:0002808
- 2 of 6 reported patients
- Bifid uvulaHPOHP:0000193
- 1 of 6 reported patients
- PlagiocephalyHPOHP:0001357
- 1 of 6 reported patients
- ScoliosisHPOHP:0002650
- 1 of 6 reported patients
- Self-injurious behaviorHPOHP:0100716
- 1 of 6 reported patients
- Delayed speech and language developmentHPOHP:0000750
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.
- KMT2CHGNC:13726
- Definitive · Ambry Genetics · Autosomal dominant · 2025
- Definitive · Broad Center for Mendelian Genomics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2025
- Moderate · Illumina · Autosomal dominant · 2021
Where it sits
- A kind of