Create issue ticket

1 Possible Causes for Cerebellar Ataxia (in HHS Variant

  • Dyskeratosis Congenita

    Ataxia may result from cerebellar hypoplasia in the HH variant of DC [ 9 ; 11 ; 13 - 15 ].[ncbi.nlm.nih.gov] Patients who present with pancytopenia and ataxia in whom DC is not initially suspected may actually have HH; a mutation in TINF2 was recently identified in a patient with[ncbi.nlm.nih.gov]

Further symptoms