X-linked intellectual disability-craniofacioskeletal syndrome

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X-linked intellectual disability-craniofacioskeletal syndrome is a rare hereditary syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment females present with microcephaly short stature skeletal features and extra temporal lobe gyrus. In males intrauterine growth impairment cardiac and urogenital anomalies have been reported.

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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X-linked intellectual disability-craniofacioskeletal syndrome?

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