The exact role of the ANKRD17 gene is unknown and research is ongoing to better understand how disruption of one copy of this gene leads to developmental difficulties.
Most commonly, individuals with this disorder have a variant in one copy of ANKRD17 which results in loss of function. For example, this may be because of a deletion (part of the gene or the whole gene missing) or a gene variant which results in a “stop” in the reading of the gene. Other individuals, a minority, have a spelling error in the gene (missense variant) which alters the function of the gene. At this point, there is no evidence that one type of gene variant is more severe than others.