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KDM5C-related syndromic X-linked intellectual disability
Disease definition
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.
ORPHA:85279
Classification level: DisorderA summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)
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