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.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.

合計: 0

（表示件数）

PMID (PMCID)