Potocki-Lupski syndrome
Findings
No curated finding names Potocki-Lupski syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.
Definition from the Mondo Disease Ontology (MONDO:0012574), read 2026-09-29. CC BY 4.0.
Features
53 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.
- Abnormality of chromosome segregationHPOHP:0002916
- Very frequent (80% to 99% of cases)
- Abnormality of the pharynxHPOHP:0000600
- Very frequent (80% to 99% of cases)
- AphasiaHPOHP:0002381
- Very frequent (80% to 99% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Very frequent (80% to 99% of cases)
- AutismHPOHP:0000717
- Very frequent (80% to 99% of cases)
- DysarthriaHPOHP:0001260
- Very frequent (80% to 99% of cases)
Show the remaining 41
- Sleep apneaHPOHP:0010535
- Very frequent (80% to 99% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Frequent (30% to 79% of cases)
- AnxietyHPOHP:0000739
- Frequent (30% to 79% of cases)
- Broad foreheadHPOHP:0000337
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
- EEG abnormalityHPOHP:0002353
- Frequent (30% to 79% of cases)
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.
- RAI1HGNC:9834
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
5 names
Resolves to: Potocki-Lupski syndrome
- Also called
- 17p11.2 Duplication syndrome17p11.2 microduplication syndromechromosome 17p11.2 duplication syndromePotocki-Lupski syndrome, Isolated casestrisomy 17p11.2