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.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024
Newly diagnosed with
Distal 7q11.23 microdeletion syndrome?
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Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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