Ataxia-pancytopenia syndrome is a rare autosomal dominant disorder characterized by cerebellar ataxia, peripheral neuropathies, pancytopenia and a predilection to myelodysplastic syndrome and acute myeloid leukemia.
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History
This syndrome was first described in 1981.
Genetics
This syndrome is caused by mutations in the sterile alpha motif domain containing 9-like (SAMD9L) gene. This gene is located on the long arm of chromosome 7.
References
Ataxia-pancytopenia syndrome Wikipedia(Text) CC BY-SA