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Pfeiffer syndrome type 1

Disease Summary
Associated Targets (2)
Tclin

2


Mondo Description Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.
Mondo Term and Equivalent IDs
MONDO:0019659:  Pfeiffer syndrome type 1
Orphanet:93258: 
UMLS:CN206533: