GTR Home > Conditions/Phenotypes > Ataxia-pancytopenia syndrome

Summary

Excerpted from the GeneReview: SAMD9L Ataxia-Pancytopenia Syndrome
SAMD9L ataxia-pancytopenia (ATXPC) syndrome is characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to marrow failure, myelodysplasia, and myeloid leukemia, sometimes associated with monosomy 7. The onset of hematologic abnormalities has been reported as early as age three months. The cytopenias in all cell lineages range from mild to very severe. Onset of neurologic impairment is variable. Nystagmus, dysmetria, increased deep tendon reflexes, and clonus are common. Gait impairment and other neurologic abnormalities are slowly progressive.

Available tests

26 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: ATXPC, C7DELq, C7orf6, DEL7q, DRIF2, M7MLS1, MLSM7, SCA49, UEF1, SAMD9L
    Summary: sterile alpha motif domain containing 9 like

Clinical features

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