KDM5C-related syndromic X-linked intellectual disability

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KDM5C-related syndromic X-linked intellectual disability

A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity cryptorchidism maxillary hypoplasia alopecia areata epilepsy short stature impaired speech and behavioral problems.

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 December 2023

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KDM5C-related syndromic X-linked intellectual disability?

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