Congenital anaemia with ataxia, clonus, and positive Babinski sign.
In males. Anaemia from birth; ataxia becomes evident by age 1 year, accompanied by clonus, positive Babinski sign. Inheritance is X-linked recessive.
The term Pagon’s syndrome has also been used as a synonym for Walker-Warburg syndrome, or cerebro-ocular dysgenesis.
- R. A. Pagon, T. D. Bird, J. C. Detter, et al:
Hereditary sideroblastic anemia with ataxia. An X-linked recessive disorder.
Journal of Medical Genetics, London, 1985, 22: 267-273.
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