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.

Downslanted palpebral fissures

The palpebral fissure inclination is more than two standard deviations below the mean.

Total: 0

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PMID (PMCID)