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disease: Myelocerebellar disorder

id2998
nameMyelocerebellar disorder
descriptionSAMD9L-related 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 ranged 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.
variant-disease NM_152703.5(SAMD9L):c.2956C>A (p.Arg986Ser) AND Myelocerebellar disorder
NM_152703.5(SAMD9L):c.2640C>A (p.His880Gln) AND Myelocerebellar disorder
NM_152703.5(SAMD9L):c.2956C>T (p.Arg986Cys) AND Myelocerebellar disorder
NM_152703.5(SAMD9L):c.3587G>C (p.Cys1196Ser) AND Myelocerebellar disorder
NM_152703.5(SAMD9L):c.2672T>C (p.Ile891Thr) AND Myelocerebellar disorder