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- B978aa35a628085b7d7e9d40fc10792ff hasDbXref "Orphanet:72" @default.
- B978aa35a628085b7d7e9d40fc10792ff hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- B978aa35a628085b7d7e9d40fc10792ff type Axiom @default.
- B978aa35a628085b7d7e9d40fc10792ff annotatedProperty IAO_0000115 @default.
- B978aa35a628085b7d7e9d40fc10792ff annotatedSource MONDO_0007113 @default.
- B978aa35a628085b7d7e9d40fc10792ff annotatedTarget "A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features." @default.