disease: Myelocerebellar disorder
| id | 2998 |
|---|---|
| name | Myelocerebellar disorder |
| description | SAMD9L-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 |