X-linked intellectual disability, Schimke type

What is X-linked intellectual disability, Schimke type?

X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked.

Inheritance type

X-linked recessive

Prevalence

• Worldwide: <1 in 1,000 000

Age of Onset

• Infancy
• Neonatal