Table 1
Clinical and cellular phenotype in proband II.1 compared to A-T and NBS syndromes
| A-T | A-T var | NBS | II.1 | |
|---|---|---|---|---|
| +, present; +/−, sometimes present; −, absent; ND: not determined. | ||||
| Onset in childhood | + | +/− | + | − |
| Ataxia | + | + | − | + |
| Polyneuropathy | − | +/− | − | + |
| Choreoathetosis | + | + | − | + |
| Dystonia | + | + | − | + |
| Immunodeficiency | + | +/− | + | − |
| Telangiectasia | + | +/− | − | − |
| Stunted growth | +/− | ND | + | + |
| Microcephaly | − | +/− | + | − |
| High α-fetoprotein | + | + | − | + |
| Sinopulmonary inf | + | − | + | − |
| Mental impairment | − | ND | + | + |
| Cancer susceptibility | + | +/− | + | − |
| Chromosomal instability | + | + | + | + |
