Distal 7q11.23 microduplication syndrome
ORPHA:261102· ICD-10 Q92.3
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.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal