Of 23 affected males, all were reported to have developmental delay (23/23), with speech delay (23/23) being more prominent than motor delay (15/23). Of those who could be assessed, 17/20 showed intellectual disability, and most were diagnosed with autism or were reported to have autistic traits (15/21). Most males had behavioral concerns at some point in development (18/23). Most affected males were also reported to have at least mild facial dysmorphism (18/23), some of which were highly similar to the individuals reported in Philips et al. Similarities include thick eyebrows, deeply set eyes, long palpebral fissures, protruding ears, and a high anterior hairline. Other variable features include genitourinary anomalies (n=11 individuals), short stature (n=6), microcephaly (n=5), scoliosis/kyphosis (n=4), and functional gastrointestinal problems (n=6) (from Hiatt, et al., 2023).
ZMYM3