Trisomy 18p

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Synonyms: Duplication 18p | Duplication of the short arm of chromosome 18 | Trisomy of the short arm of chromosome 18

A rare partial trisomy of the short arm of chromosome 18 manifesting with a highly variable clinical phenotype which may include variable developmental delay and intellectual disability epilepsy and non-specific dysmorphic features among others.

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 June 2024

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Trisomy 18p?

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Clinical Trials

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