A new X‐linked syndrome comprising progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness

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Abstract
We report on 4 boys (3 in one family) who have a remarkably constant syndrome of childhood‐onset choreoathetosis with later spasticity, postnatal microcephaly, growth and mental retardation, apparent external opthalmoplegia and varying degrees of deafness. The pedigrees are consistent with X‐linked inheritance. The syndrome is compared and contrasted with others comprising basal ganglion dysfunction in childhood. It is concluded that clinically and genetically the condition is unique.