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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.
Biomarker and diagnostic research for Hao-Fountain syndrome due to 16p13.2 microdeletion has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Hao-Fountain syndrome due to 16p13.2 microdeletion.
3 publications have been identified in PubMed for Hao-Fountain syndrome due to 16p13.2 microdeletion. Research spans Diagnostic / Biomarker (67%) and Basic Science / Preclinical (33%).
Korchak EJ (2025). [PMID: 40982686](https://pubmed.ncbi.nlm.nih.gov/40982686/). *Proceedings of the National Academy of Sciences of the United States of America*. [Basic Science / Preclinical]
Hiatt SM (2024). [PMID: 38585854](https://pubmed.ncbi.nlm.nih.gov/38585854/). *medRxiv : the preprint server for health sciences*. [Diagnostic / Biomarker]
Hiatt SM (2024). [PMID: 39299904](https://pubmed.ncbi.nlm.nih.gov/39299904/). *Genome research*. [Diagnostic / Biomarker]
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 3:54 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Hao-Fountain syndrome due to 16p13.2 microdeletion