Distal 7q11.23 microdeletion syndrome

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Synonyms: Distal del(7)(q11.23) | Distal monosomy 7q11.23

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).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Distal 7q11.23 microdeletion syndrome?

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