2q32q33 microdeletion syndrome

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2q32q33 microdeletion syndrome

Synonyms: Del(2)(q32) | Del(2)(q32q33) | Monosomy 2q32 | Monosomy 2q32q33

A rare autosomal monosomy characterized by a variable phenotype with moderate to severe intellectual disability behavioral problems short stature microcephaly dysplastic nails sparse hair cleft palate and dysmorphic craniofacial features.

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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2q32q33 microdeletion syndrome?

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