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

Acrofrontofacionasal dysostosis

A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.

Eyelid coloboma

A short discontinuity of the margin of the lower or upper eyelid.

Total: 0

(per page)

PMID (PMCID)