7p22.1 microduplication syndrome

MONDO:0017792

7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.

Also known as: dup(7)(p22.1), trisomy 7p22.1

0 clinical trials for this condition and its sub-types, 0 tagged with 7p22.1 microduplication syndrome itself.

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↑ Congenital nervous system disorder (284) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Syndromic intellectual disability (38) ↑ Partial duplication of the short arm of chromosome 7 (0)

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