Distal 7q11.23 microdeletion syndrome
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Distal 7q11.23 microdeletion syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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