Families

Probands with very rare mutations in the ZMYM3 gene present with developmental delay, intellectual disability, behavioral issues, and sometimes distinct facial features. Less than 30 probands have been described to date. This ZMYM3-associated syndrome is likely a very rare neurodevelopmental disorder. 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 mothers who carry the variant, however de novo (“new”, not inherited) mutations have also been observed in both males and females.