Table 2. Phenotypic data in 21 JBS cases with a molecular diagnosis.
| ID | Age (yrs)/sex (M/F) | Gene | Kidney | Liver | Development | Oculomotor/eyes | Eye malformation | Respiration | Other |
|---|---|---|---|---|---|---|---|---|---|
| 1 (2–37) | 10/M | AHI1 | N | N | PMR moderate | OMA, rotatory nystagmus, vision 0,4 | — | Tachypnea/apnea | |
| 2 (2–43) | 15/M | AHI1 | N | N | PMR moderate | OMA, retinal dysplasia with flat/absent ERG, nystagmus | — | Tachypnea/apnea | Autism |
| 3 (2–51) | 11/M | AHI1 | N | N | PMR moderate | OMA, rotatory nystagmus retinitis pigmentosa | — | N | Epilepsy ptosis extra nipple |
| 4 (2–49) | 11/M | AHI1/TMEM67 | N | Elevated liver enzymes | PMR | Nystagmus, vision reduced | Microphthalmia, coloboma | N | |
| 5 (1–38) | 13/M | C5orf42 | N | N | PMR mild/moderate | OMA, vision 0,4 | — | N | |
| 6 (1–42) | 2/M | C5Orf42 | N | N | PMR moderate | OMA | — | Tachypnea | |
| 7 (1–53) | 32/M | C5orf42 | N | N | PMR mild | N | — | Tachypnea/apnea | Postaxial polydactyly four limbs |
| 8 (1–58) | 3/M | C5orf42 | N | N | PMR mild | OMA, upbeat nystagmus | — | N | |
| 9 (1–64) | 37/M | C5orf42 | N | N | PMR moderate | Rotatory nystagmus bitemporal hemianopsia normal vision | — | Not reported | |
| 10 (2–57) | 3/M | C5orf42 | N | N | PMR mild | OMA | — | N | |
| 11 (1–34) | 20/M | CC2D2A | Renal insufficieny | N | PMR moderate | OMA, rotatory nystagmus, vision 0,1 | — | Not reported | |
| 12 (2–45) | 8/M | CEP290 | N | N | PMR severe | Retinal dystrophy, severe | — | N | |
| 13 (1–52) | 22/M | INPPE5 | Nephronophthisis kidney transplant | Not reported | PMR moderate | OMA, retinal dysplasia, vision 0,25 nystagmus | — | Porokeratosis | |
| 14 (2–44) | 14/M | INPP5E | Not available | Not available | PMR | Nystagmus, retinal dystrophy | — | N | |
| 15 (2–52) | 13/M | OFD1 | Kidney transplant | Not reported | PMR mild | N | — | Sleep apnea | Autism |
| 16 (1–39) | 12/M | RPGRIP1l | Kidney transplant | Not reported | PMR severe | Nystagmus impaired vision | — | Tachypnea/apnea | Polymicrogyria, microcephaly, small penis |
| 17 (1–33) | 4/F | TMEM231 | N | N | PMR severe | ERG negative roving eye movements | — | N | Unilateral postaxial polydactyly |
| 18 (1–44) | 4/M | TMEM67 | N | Hepatomegaly (mild) | PMR | Limited abduction (left), nystagmus retinal dypsplasia | Microphthalmia coloboma ODS | Tachypnea | |
| 19 (1–48) | Died 16/M | TMEM67 | Nephronophthisis | Hepatic fibrosis | PMR | OMA | Coloboma | Tachypnea /apnea | |
| 20 (1–49) | 4/F | TMEM67 | N (age 1 ½ yrs) | N (age 1 ½ yrs) | PMR severe | Nystagmus | Coloboma OD | Tachypnea | Growth retardation |
| 21 (2–66) | 1/F | TMEM67 | Hyperechogenic renal cortex | Elevated liver enzymes | PMR severe | Intermittent nystagmus until age 6 months | Coloboma OS | Tachypnea |
Abbreviations: M, male; F, female; N, normal; PMR, psychomotor retardation; OMA, oculomotor apraxia, OD, right eye; OS, left eye; ERG, electroretinogram.
All patients fulfill the diagnostic criteria for Joubert syndrome, that is, developmental delay, axial hypotonia, and molar tooth sign on MRI.