chromosome 17q21.31 duplication syndrome
MONDO:0013298Mondo
Findings
No curated finding names chromosome 17q21.31 duplication syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.
Definition from the Mondo Disease Ontology (MONDO:0013298), read 2026-09-29. CC BY 4.0.
Features
25 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 the outer earHPOHP:0000356
- Very frequent (80% to 99% of cases)
- AutismHPOHP:0000717
- 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)
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
- Anteverted naresHPOHP:0000463
- Frequent (30% to 79% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Frequent (30% to 79% of cases)
- Autistic behaviorHPOHP:0000729
- Frequent (30% to 79% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Frequent (30% to 79% of cases)
- Generalized hirsutismHPOHP:0002230
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
Show the remaining 13
- Malar flatteningHPOHP:0000272
- Frequent (30% to 79% of cases)
- Short noseHPOHP:0003196
- Frequent (30% to 79% of cases)
- Short philtrumHPOHP:0000322
- Frequent (30% to 79% of cases)
- Toe syndactylyHPOHP:0001770
- Frequent (30% to 79% of cases)
- Compulsive behaviorsHPOHP:0000722
- Occasional (5% to 29% of cases)
- Delayed pubertyHPOHP:0000823
- Occasional (5% to 29% of cases)
Where it sits
Other names
3 names
Resolves to: chromosome 17q21.31 duplication syndrome
- Also called
- 17q21.31 microduplication syndromedup(17)(q21.31)trisomy 17q21.31