oculorenocerebellar syndrome
MONDO:0009772Mondo
Findings
No curated finding names oculorenocerebellar syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
29 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.
- Abnormal retinal pigmentationHPOHP:0007703
- Very frequent (80% to 99% of cases)
- Abnormal retinal vascular morphologyHPOHP:0008046
- Very frequent (80% to 99% of cases)
- ChoreoathetosisHPOHP:0001266
- Very frequent (80% to 99% of cases)
- GlomerulopathyHPOHP:0100820
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Joint hypermobilityHPOHP:0001382
- Very frequent (80% to 99% of cases)
- Optic atrophyHPOHP:0000648
- Very frequent (80% to 99% of cases)
- Profound intellectual disabilityHPOHP:0002187
- Very frequent (80% to 99% of cases)
- ProteinuriaHPOHP:0000093
- Very frequent (80% to 99% of cases)
- Renal insufficiencyHPOHP:0000083
- Very frequent (80% to 99% of cases)
- StrabismusHPO · MondoHP:0000486
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the cerebellumHPOHP:0007360
- Frequent (30% to 79% of cases)
Show the remaining 17
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- Hypoplasia of the zygomatic boneHPOHP:0010669
- Frequent (30% to 79% of cases)
- MacrotiaHPOHP:0000400
- Frequent (30% to 79% of cases)
- Malar prominenceHPOHP:0010620
- Frequent (30% to 79% of cases)
- Mandibular prognathiaHPOHP:0000303
- Frequent (30% to 79% of cases)
- Narrow faceHPOHP:0000275
- Frequent (30% to 79% of cases)
Where it sits
- A kind of