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A rare genetic syndromic hair shaft abnormality disorder characterized by short dry sulfur-deficient brittle hair usually associated with highly variable neuroectodermal manifestations such as ichthyosis photosensitivity and intellectual disability.

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 November 2023

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