9q21.13 microdeletion syndrome

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Genotype-phenotype comparisons of 13 patients revealed several common major characteristics including significant developmental delay, epilepsy, neuro-behavioural disorders and recognizable facial features including hypertelorism, feature-less philtrum, and a thin upper lip.

The Boudry-Labis et al., article strongly suggests that these deletions are responsible for a new genetic syndrome characterised by