Synonyms: Chromosome 16p13.2 deletion syndrome | Del(16)(p13.2) | Monosomy 16p13.2
A partial deletion of the short arm of chromosome 16 characterized by developmental delay intellectual disability speech delay autism spectrum disorder epilepsy hypogonadism and hypotonia. The behavioral profile includes impulsivity compulsivity stubbornness manipulative behaviors temper tantrums and aggressive behaviors.
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 2026
Newly diagnosed with
Hao-Fountain syndrome due to 16p13.2 microdeletion?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
Through sharing knowledge and lived experience, Unique helps families and professionals navigate the world of chromosome and gene disorders
ReNU2 United
ReNU2 United fosters collaboration, supports families, raises awareness, and advances research into RNU2-2-related neurodevelopmental disease.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.