Alopecia-epilepsy-pyorrhea-intellectual disability syndrome

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Alopecia-epilepsy-pyorrhea-intellectual disability syndrome

Synonyms: Shokeir syndrome

A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis intellectual disability psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.

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 Data version December 2023

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