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- Bc69788ad517924b82b428be0b22e1002 hasDbXref "Orphanet:96112" @default.
- Bc69788ad517924b82b428be0b22e1002 type Axiom @default.
- Bc69788ad517924b82b428be0b22e1002 annotatedProperty IAO_0000115 @default.
- Bc69788ad517924b82b428be0b22e1002 annotatedSource MONDO_0019890 @default.
- Bc69788ad517924b82b428be0b22e1002 annotatedTarget "Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported." @default.