Hao-Fountain syndrome due to 16p13.2 microdeletion
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Hao-Fountain syndrome due to 16p13.2 microdeletion?
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