X-linked intellectual disability, Schimke type

Rare Disease

MONDO:0010729

Also Known As

Schimke X-linked intellectual disability syndromeSchimke X-linked mental retardation syndromechildhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and intellectual disability, ophthalmoplegia, and deafnesschildhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafnesschoreoathetosis with intellectual disability X- linkedchoreoathetosis with intellectual disability, X-linkedchoreoathetosis with mental retardation X- linkedchoreoathetosis with mental retardation, X-linkedprogressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness

Definition

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.