oculocerebral hypopigmentation syndrome of Preus
MONDO:0009766Mondo
Findings
No curated finding names oculocerebral hypopigmentation syndrome of Preus yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
26 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.
- Abnormality of immune system physiologyHPOHP:0010978
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the cerebellumHPOHP:0007360
- Very frequent (80% to 99% of cases)
- Generalized hypopigmentationHPOHP:0007513
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
- High palateHPOHP:0000218
- Very frequent (80% to 99% of cases)
- HypertoniaHPOHP:0001276
- Very frequent (80% to 99% of cases)
- Hypochromic anemiaHPOHP:0001931
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Iris hypopigmentationHPOHP:0007730
- Very frequent (80% to 99% of cases)
- NystagmusHPOHP:0000639
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
Show the remaining 14
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- White hairHPOHP:0011364
- Very frequent (80% to 99% of cases)
- Abnormal brainstem morphologyHPOHP:0002363
- Frequent (30% to 79% of cases)
- Abnormal diencephalon morphologyHPOHP:0010662
- Frequent (30% to 79% of cases)
- Abnormality of neutrophilsHPOHP:0001874
- Frequent (30% to 79% of cases)
- ArachnodactylyHPOHP:0001166
- Frequent (30% to 79% of cases)
Where it sits
- A kind of