KDM5C-related syndromic X-linked intellectual disability

What is 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.

Inheritance type

X-linked recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Childhood
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