Patient ID | Phenotype | Genotype | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|

Ocular | Renal | Audio-vestibular | Gene | Mutation | |||||||||

Eye vision R/L | Fundus finding | Macular alterations |
eGFR <60 ml/min/1.73 m ^{2}
| Max uOsm <750 mOsm/kg | Ultrasound abnormalities | Hearing impairment | Timpanogram type | DPOAE L/R | Vestibular test | ABR alteration | |||

P.1 | 0.25/0.2 | RP sp | Yes | No | Yes | Yes | No | AA | +/− | spontaneous NY | No |
BBS1
| c.664G>C/c.664G>C |

P.2 | 0.3/0.2 | RP sp | No | No | No | Yes | mixed | BB | + /- | positional NY | only V wave |
BBS1
| c.664G>C/c.664G>C |

P.3 | 0.2/0.1 | RP | NP | NP | NP | NP | NP | NP | NP | NP | NP |
BBS1
| c.1169T>G /c.1169T>G |

P.4 | LP/LP | RP | NP | NP | NP | Yes | NP | NP | NP | NP | NP |
BBS1
| c.1169T>G /c.1169T>G |

P.5 | LP/LP | RP | Yes | No | No | Yes | No | AA | +/− | No | No |
BBS1
| c.1169T>G /c.1169T>G |

P.6 | 0.05/0.03 | RP | Yes | No | No | No | NP | NP | NP | NP | NP |
BBS1
| c.1169T>G/c.1642delC |

P.8^{a}
| 0.02/0.008 | RP sp | Yes | No | Yes | Yes | NP | NP | NP | NP | NP |
BBS2
| c.84delC/c.1059dupT |

BBS1
| c.1702G>A/N | ||||||||||||

P.9 | 0.02/0.02 | RP | No | No | No | Yes | sensorineural | AA | −/− | positional NY | > latency I,III,V |
BBS2
| c.225T>G/c.225T>G |

P.12 | LP/LP | RP | Yes | No | Yes | Yes | NP | NP | NP | NP | NP |
BBS10
| c.2137_2140del/c.962A>G |

BBS2
| c.535-79_90del/N | ||||||||||||

P.13 | 0.03/0.08 | RP | Yes | Yes | Yes | Yes | sensorineural | AA | +/+ | No | No |
BBS10
| c.235dupA/c.271dupT |

P.14 | LP/LP | RP | NP | NP | NP | NP | NP | NP | NP | NP | NP |
BBS10
| c.509T>C/c.509T>C |

P.15 | LP/LP | RP | Yes | No | Yes | Yes | sensorineural | AA | +/+ | positional NY | No |
BBS10
| c.641T>A/c.641T>A |