X-linked intellectual disability, Schimke type

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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.

Rare and genetic diseases

Rare diseases - X-linked intellectual disability, Schimke type

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X-linked intellectual disability, Schimke type

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