Alopecia-intellectual disability syndrome

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Synonyms: Perniola-Krajewska-Carnevale syndrome

An extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures sensorineural hearing loss delayed psychomotor development and/or hypertonia.

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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Alopecia-intellectual disability syndrome?

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