9q33.3q34.11 microdeletion syndrome

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9q33.3q34.11 microdeletion syndrome

Synonyms: Del(9)(q33.3q34.11) | Deletion 9q33.3q34.11 | Monosomy 9q33.3q34.11

A partial monosomy of the long arm of chromosome 9 characterized by intellectual disability developmental delay with pronounced speech delay short stature and muscular hypotonia. Common craniofacial dysmorphic features consist of microcephaly prominent forehead round face arched eyebrows upslanting palpebral fissures strabismus short nose and thin upper lip. Other clinical findings include epilepsy ataxia unspecific brain MRI findings early-onset primary dystonia nail dysplasia and bone malformations in particular patellar abnormalities epistaxis and cutaneous-mucous telangiectasias.

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 May 2024

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9q33.3q34.11 microdeletion syndrome?

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