distal 7q11.23 microdeletion syndrome
Findings
No curated finding names distal 7q11.23 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).
Definition from the Mondo Disease Ontology (MONDO:0013393), read 2026-09-29. CC BY 4.0.
Features
12 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.
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Specific learning disabilityHPOHP:0001328
- Frequent (30% to 79% of cases)
- Aggressive behaviorHPOHP:0000718
- Occasional (5% to 29% of cases)
- Atrial septal defectHPOHP:0001631
- Occasional (5% to 29% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Occasional (5% to 29% of cases)
- Autism
Where it sits
Other names
3 names
Resolves to: distal 7q11.23 microdeletion syndrome
- Also called
- chromosome 7q11.23 deletion syndrome, distal, 1.2mbdistal del(7)(q11.23)distal monosomy 7q11.23