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17q11.2 microduplication syndrome

MONDO:0015350

17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.

Also known as: Grisart-Destree syndrome, Grisart-Destrée syndrome, Nf1 Microduplication Syndrome, chromosome 17q11.2 duplication syndrome, 1.4-mb, dup(17)(q11.2), trisomy 17q11.2

1 clinical trial for this condition and its sub-types.

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Broader categories

Disease (680) Hereditary disease (176) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Autosomal anomaly (0) Chromosome 17 disorder (0) Disease by etiologic mechanism (0) Partial duplication of chromosome 17 (0) Partial duplication of the long arm of chromosome 17 (0)
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    Sponsor: Simons Searchlight • Aim: Knowledge-focused

    Last updated Jul 25, 2026 00:00 UTC

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