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

Acrodysostosis

A rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.

Open mouth

A facial appearance characterized by a permanently or nearly permanently opened mouth.

Total: 0

(per page)

PMID (PMCID)