Senior-Loken syndrome is a disorder characterised by late-onset retinitis pigmentosa, nephronophthisis and end-stage renal disease.
Senior-Loken syndrome is a disorder characterised by late-onset retinitis pigmentosa, nephronophthisis and end-stage renal disease.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 606996.G.1 | Saudi Arabia | Unknown | Yes | Yes | Visual impairment; Rod-cone dystrophy;... Visual impairment; Rod-cone dystrophy; Stage 5 chronic kidney disease  | NM_015102.5:c.673G>T | Homozygous | Autosomal, Recessive | Patel et al, 2018 | 2 family members |