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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease trisomy 9p
Comorbidity C0014544|epilepsy
Sentences 1
PubMedID- 20858261 We describe a 17-year-old girl with autism, mental retardation, and epilepsy with features of the 9p duplication syndrome who has a mosaic marker chromosome derived from 9p24.3 to 9p13.1.

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