distal 7q11.23 microduplication syndrome
Findings
No curated finding names distal 7q11.23 microduplication syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.
Definition from the Mondo Disease Ontology (MONDO:0016832), read 2026-09-29. CC BY 4.0.
Features
14 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.
- Aortic aneurysmHPOHP:0004942
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Very frequent (80% to 99% of cases)
- AnxietyHPOHP:0000739
- 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)
- Congenital diaphragmatic herniaHPOHP:0000776
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- Benign neoplasm of the central nervous systemHPOHP:0100835
- Occasional (5% to 29% of cases)
- Chiari malformationHPOHP:0002308
- Occasional (5% to 29% of cases)
- Frontoethmoidal encephaloceleHPOHP:0007330
- Occasional (5% to 29% of cases)
Show the remaining 2
- HydrocephalusHPOHP:0000238
- Occasional (5% to 29% of cases)
- Patent ductus arteriosusHPOHP:0001643
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
3 names
Resolves to: distal 7q11.23 microduplication syndrome
- Also called
- distal dup(7)(q11.23)distal trisomy 7q11.23Dup7q11.23D