Professionals

Probands with ultra-rare mutations in the ZMYM3 gene present with developmental delay, intellectual disability, behavioral issues, and sometimes a distinct facial gestalt. Fewer than 30 probands have been described in the literature to date. This ZMYM3-associated syndrome is likely a very rare neurodevelopmental disorder. This gene is located on the X chromosome. Most probands described with variation in this gene are males, but some females with developmental delays have also been described. Described variants are often inherited from unaffected or mildly-affected heterozygous mothers who carry the variant; however, de novo mutations have also been observed in both males and females.