New X-linked syndrome with apraxia, ataxia, and mental deficiency: clinical, cytogenetic and neuropsychological studies in two Danish families.

Abstract excerpt

In 2 unrelated families 9 males presented with ataxia, apraxia, and neuropsychological abnormalities or mental deficiency, inherited as an X-linked recessive syndrome with partial clinical expression in obligate female carriers. The symptoms were present in early childhood and were non-progressive. Additional findings in 2 males were congenital "club-feet" and generalized seizures. The affected males were 13-62...

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