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- Ba04ebcf9e1825f73a5d5de4aeb347aeb hasDbXref "Orphanet:1695" @default.
- Ba04ebcf9e1825f73a5d5de4aeb347aeb type Axiom @default.
- Ba04ebcf9e1825f73a5d5de4aeb347aeb annotatedProperty IAO_0000115 @default.
- Ba04ebcf9e1825f73a5d5de4aeb347aeb annotatedSource MONDO_0015712 @default.
- Ba04ebcf9e1825f73a5d5de4aeb347aeb annotatedTarget "Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism." @default.