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- B6af6a570cb47e142b0a6cea7e49f7fb6 hasDbXref "Orphanet:96098" @default.
- B6af6a570cb47e142b0a6cea7e49f7fb6 type Axiom @default.
- B6af6a570cb47e142b0a6cea7e49f7fb6 annotatedProperty IAO_0000115 @default.
- B6af6a570cb47e142b0a6cea7e49f7fb6 annotatedSource MONDO_0019881 @default.
- B6af6a570cb47e142b0a6cea7e49f7fb6 annotatedTarget "Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported." @default.