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A newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations. Eight cases have been reported to date. The most common facial features include eye anomalies: strabismus, deeply set eyes, and epicanthic folds and ear anomalies such as over-folded helices and low-set ears. Reported patients have deletions of variable size. The critical region for the 6p22 deletion phenotype is 2.2 Mb and encompasses 12 genes; their function is still largely unknown.
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