X-linked intellectual disability-seizures-psoriasis syndrome

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X-linked intellectual disability-seizures-psoriasis syndrome

Synonyms: Tranebjaerg-Svejgaard syndrome

A rare X-linked syndromic intellectual disability disorder characterized by severe intellectual disability psychomotor developmental delay generalized seizures and psoriasis. Mild craniofacial dysmorphism such as hypertelorism broad nasal bridge anteverted nares macrostomia highly arched palate and large ears is also associated. There have been no further descriptions in the literature since 1988.

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 October 2023.

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