X-linked intellectual disability, Schimke type
X-linked mental retardation, Schimke type, is characterized 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.
MONDO:0020119
X-linked syndromic intellectual disability
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Schimke X-linked mental retardation syndrome
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childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and intellectual disability, ophthalmoplegia, and deafness
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childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness
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choreoathetosis with intellectual disability X- linked
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choreoathetosis with mental retardation X- linked
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choreoathetosis with mental retardation, X-linked
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progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness
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