PhenomeGene — Human Disease Gene Website SeriesZMYM3

Clinical Characteristics

Individuals with mutations in ZMYM3 often have developmental delays like delays in crawling, walking, or talking. They often have intellectual disability, and some have behavioral issues like aggression and/or stereotypic behaviors. Some individuals are diagnosed with autism spectrum disorder. Some individuals also have short stature, and differences that affect their genito-urinary system. A subset of boys show distinct facial features like deep-set eyes, large cupped ears, and a tall forehead. Some mildly affected females also report histories of speech delays, learning disabilities, ADHD, and dyslexia.