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- B8981914e82013c44ffa18da34d0a9345 hasDbXref "Orphanet:783" @default.
- B8981914e82013c44ffa18da34d0a9345 type Axiom @default.
- B8981914e82013c44ffa18da34d0a9345 annotatedProperty IAO_0000115 @default.
- B8981914e82013c44ffa18da34d0a9345 annotatedSource MONDO_0019188 @default.
- B8981914e82013c44ffa18da34d0a9345 annotatedTarget "A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioral characteristics." @default.