Hao-Fountain syndrome due to 16p13.2 microdeletion

MONDO:0100528

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.

Also known as: 16p13.2 microdeletion syndrome, Del(16)(p13.2), chromosome 16P13.2 deletion syndrome, chromosome 16p13.2 deletion syndrome, monosomy 16p13.2

25 clinical trials for this condition and its sub-types.

Follow this condition — get notified about new trials

Broader categories

Sort by