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Distal 7q11.23 microdeletion syndrome
What is Distal 7q11.23 microdeletion syndrome?
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).
Other condition names
Distal del(7)(q11.23)
Distal monosomy 7q11.23
Inheritance type
Autosomal dominant, Not applicable
Prevalence
Worldwide: <1 in 1,000 000
Age of Onset
Infancy
Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on
"https://www.orphadata.com"
. Data version 1.3.16 / 4.1.7.