An X-linked syndromic intellectual disability characterized by developmental delay, intellectual disability with significant speech impairment, and short stature in male patients. Variable additional clinical features have been associated, including macrocephaly, seizures, tremor, gait abnormalities, hypogonadism, truncal obesity, behavioral disturbances and unspecific facial dysmorphism.

Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.