rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
MONDO:0010000Mondo
Findings
No curated finding names rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Renal Fanconi syndromeHPOHP:0001994
- 6 of 6 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 6 of 6 reported patients
- Visual impairmentHPOHP:0000505
- 6 of 6 reported patients
- Hearing impairmentHPOHP:0000365
- 4 of 6 reported patients
- RicketsHPOHP:0002748
- 4 of 6 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 3 of 6 reported patients · Young adult onset
- Bilateral sensorineural hearing impairmentHPOHP:0008619
- 1 of 6 reported patients
- CataractHPOHP:0000518
- 1 of 6 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 1 of 6 reported patients
- GlycosuriaHPOHP:0003076
- 1 of 6 reported patients
- Optic atrophyHPOHP:0000648
- 1 of 6 reported patients
- Optic disc pallorHPOHP:0000543
- 1 of 6 reported patients
Show the remaining 5
- Peripheral visual field lossHPOHP:0007994
- 1 of 6 reported patients
- Recurrent fracturesHPOHP:0002757
- 1 of 6 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 1 of 6 reported patients
- Short statureHPOHP:0004322
- 1 of 6 reported patients
- Spicular pigmentation of the retinaHPOHP:0007737
- 1 of 6 reported patients
Where it sits
- A kind of