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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
2q32q33 microdeletion syndrome?
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Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
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Curing single-gene disorders
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Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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