Report of major BBS clinical features in the 38 patients without previously known molecular diagnosis, with or without detected mutations
| Retinitis pigmentosa | Obesity | Polydactyly | Brachydactyly | Hypogonadism | Cystic kidney | Mild intellectual disabilities | |
| 2 BBS mutations | 95.65% (22/23) | 86.96% (20/23) | 69.57% (16/23) | 43.48% (10/23) | 39.13% (9/23) | 21.74% (5/23) | 73.91% (17/23) |
| 2 ALMS1 mutations | 3/3 | 1/3 (AIA84) | 0/3 | 2/3 (AIA84, AKO26) | 2/3 (AIA84, AKO26) | 1/3 (ALB64) | 2/3 (AIA84, AKO26) |
| 0 or 1 mutation | 81.82% (9/11) | 81.82% (9/11) | 25.00% (3/12) | 33.33% (4/12) | 41.67% (5/12) | 50% (5/10) | 81.82% (9/11) |
ALMS1 patients: AIA84 was addressed to Strasbourg Diagnostic Laboratory for Bardet–Biedl or Prader-Willi syndromes, AKO26 for suggestive BBS or ALMS with abnormal cognitive defects and ALB64 for a syndromic retinal dystrophy or suggested ALMS. Patients with a proposed Alström syndrome presented with early deafness: at 5 (ALB64) or 6 (AKO26) years of age.