Ocular
Telangiectasias of the conjunctiva, horizontal or vertical oculomotor apraxia (inability to generate saccades, but normal pursuit), and cerebellar eye movements.
Systemic
Progressive cerebellar ataxia with gradual deterioration of motor function. Cutaneous telangiectasias. Recurrent sinopulmonary infections. Various immunologic abnormalities (e.g., IgA deficiency and T-cell dysfunction). High incidence of malignancy (mainly leukemia or lymphoma), developmental delay and loss of motor milestones, vitiligo, premature graying of the hair, testicular or ovarian atrophy, hypoplastic or atrophic thymus, and acute radiosensitivity.
Inheritance
Autosomal recessive: ATM gene on chromosome 11q22.
Workup