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Mol Syndromol. 2012 Apr;2(3-5):213-216. Epub 2011 Aug 30.

Mild to Moderate Intellectual Disability and Significant Speech and Language Deficits in Patients with FOXP1 Deletions and Mutations.

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  • 1Institute for Medical Genetics and Human Genetics, Charité, University Medicine of Berlin, Germany.


Very recently, FOXP1 deficiency was shown to result in a phenotype of intellectual disability with significant speech and language impairment. Behavioral abnormalities should be considered as part of the clinical spectrum. Mild craniofacial abnormalities found in half of the described patients expand the clinical spectrum associated with FOXP1 mutations.

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