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tetrasomy 12p

Disease Summary
Associated Targets ()

Mondo Description Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.
Mondo Term and Equivalent IDs
MONDO:0011146:  tetrasomy 12p
GARD:0008421: 
MESH:C538105: 
NCIT:C75458: 
Orphanet:884: 
SCTID:9527009: 
UMLS:C0265449: