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macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome

Disease Summary
Associated Targets (1)
Tchem

1


Uniprot Description A syndrome characterized by macrothrombocytopenia, lymphedema, mental retardation, developmental delay, and distinctive facial features.
Mondo Term and Equivalent IDs
MONDO:0014757:  macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
OMIM:616737: TAKENOUCHI-KOSAKI SYNDROME
Orphanet:487796: 
UMLS:C4225222: