Kleefstra syndrome due to a point mutation
MONDO:0016865Mondo
Findings
No curated finding names Kleefstra syndrome due to a point mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
50 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.
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Frequent (30% to 79% of cases)
- Abnormality of the genital systemHPOHP:0000078
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Brain imaging abnormalityHPOHP:0410263
- Frequent (30% to 79% of cases)
- OvergrowthHPOHP:0001548
- Frequent (30% to 79% of cases)
- Recurrent infectionsHPOHP:0002719
- Frequent (30% to 79% of cases)
- Abnormal cerebral white matter morphologyHPOHP:0002500
- Occasional (5% to 29% of cases)
- Abnormal shape of the palpebral fissureHPOHP:0200005
- Occasional (5% to 29% of cases)
- Abnormality of the kidneyHPOHP:0000077
- Occasional (5% to 29% of cases)
Show the remaining 38
- Abnormality of the musculoskeletal systemHPOHP:0033127
- Occasional (5% to 29% of cases)
- Autistic behaviorHPOHP:0000729
- Occasional (5% to 29% of cases)
- Cerebellar hypoplasiaHPOHP:0001321
- Occasional (5% to 29% of cases)
- Delayed gross motor developmentHPOHP:0002194
- Occasional (5% to 29% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Occasional (5% to 29% of cases)
- Failure to thriveHPOHP:0001508
- Occasional (5% to 29% of cases)
Where it sits
- A kind of