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preaxial polydactyly-colobomata-intellectual disability syndrome

Disease Summary
Associated Targets ()

Mondo Description Preaxial polydactyly-colobomata-intellectual disability syndrome is characterised by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is thought to be autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0017377:  preaxial polydactyly-colobomata-intellectual disability syndrome
GARD:0004304: 
MESH:C537888: 
Orphanet:2921: 
SCTID:733088002: 
UMLS:C2931655: