Hao-Fountain syndrome due to 16p13.2 microdeletion
Hao-Fountain syndrome due to 16p13.2 microdeletion
Definition
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, chromosome 16P13.2 deletion syndrome, Del(16)(p13.2), monosomy 16p13.2 — per MONDO