Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

17p13.3 microduplication syndrome

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

Frontal bossing

Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.

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PMID (PMCID)