chromosome 17q12 duplication syndrome
Findings
No curated finding names chromosome 17q12 duplication syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.
Definition from the Mondo Disease Ontology (MONDO:0013796), read 2026-09-29. CC BY 4.0.
Features
17 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.
- Cortical dysplasiaHPOHP:0002539
- Frequent (30% to 79% of cases)
- Abnormal vertebral morphologyHPOHP:0003468
- Occasional (5% to 29% of cases)
- Atrial septal defectHPOHP:0001631
- Occasional (5% to 29% of cases)
- Cleft palateHPOHP:0000175
- Occasional (5% to 29% of cases)
- Deeply set eyeHPOHP:0000490
- Occasional (5% to 29% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Occasional (5% to 29% of cases)
- Finger syndactyly
Show the remaining 5
- SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)
- Self-injurious behaviorHPOHP:0100716
- Occasional (5% to 29% of cases)
- SynophrysHPOHP:0000664
- Occasional (5% to 29% of cases)
- Toe syndactylyHPOHP:0001770
- Occasional (5% to 29% of cases)
- Tracheoesophageal fistulaHPOHP:0002575
- Occasional (5% to 29% of cases)
Where it sits
Other names
3 names
Resolves to: chromosome 17q12 duplication syndrome
- Also called
- 17q12 microduplication syndromedup(17)(q12)trisomy 17q12