9q21.13 microdeletion syndrome

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9q21.13 microdeletion syndrome

A rare genetic intellectual disability malformation syndrome characterized by global developmental delay intellectual disability delayed speech and language development epilepsy autistic behavior and moderate facial dysmorphism (including elongated face narrow forehead arched eyebrows horizontal palpebral fissures hypertelorism epicanthus midface flattening short nose long and featureless philtrum thin upper lip macrostomia and prominent chin). Additional variable manifestations include microcephaly hypotonia hypertrichosis and strabismus.

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 http: //www.orphadata.org. Data version September 2023.

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9q21.13 microdeletion syndrome?

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