Non-distal duplication 9q

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Synonyms: Non-distal trisomy 9q | Non-telomeric trisomy 9q

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

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Non-distal duplication 9q?

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