Hao-Fountain syndrome due to 16p13.2 microdeletion
ORPHA:500055· ICD-10 Q93.5
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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Not applicable
- Age of onset
- Childhood, Infancy