Most individuals have two working copies of the ANKRD17 gene. This neurodevelopmental syndrome is a result of loss of function of one of the two copies of the ANKRD17 gene . This loss of function may be a result of a variation in the genetic code of the gene, or a deletion of the gene itself. In most cases, this arises “de novo” (just in the individual) due to a change in the gene in the egg or the sperm but in some cases it can be inherited from a parent.
The most common features of this condition are : intellectual disability / developmental delay (which can vary from mild to severe), speech delay and a shared facial appearance.
The prevalence of this condition is unknown. In most cases, the diagnosis is made following exome or genome sequencing).