The cardinal features of Cohen Syndrome are retinal dystrophy and high myopia, microcephaly, developmental delay, joint hypermobility, dysmorphic facies, truncal obesity with slender extremities, overly social behaviour, and neutropenia. Patients with Cohen Syndrome have dysmorphic facial features, including thick hair and eyebrows, long eyelashes, wave-shaped palpebral fissures, broad nasal tip, smooth or short philtrum, and hypotonic appearance.
VPS13B