X-linked intellectual disability, Schimke type
Definition
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.
NIH genetic and rare disease info
X-linked intellectual disability, Schimke type is a rare disease.
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