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

3q29 microdeletion syndrome

A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit 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)