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

14q11.2 microdeletion syndrome

14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.

Long philtrum

Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.

Total: 0

(per page)

PMID (PMCID)