oculocerebrodental syndrome
MONDO:0034145Mondo
Findings
No curated finding names oculocerebrodental syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
44 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.
- Coarse facial featuresHPOHP:0000280
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Developmental cataractHPOHP:0000519
- 5 of 5 reported patients · Congenital onset
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- MucopolysacchariduriaHPOHP:0008155
- 3 of 3 reported patients
- ScoliosisHPOHP:0002650
- 5 of 5 reported patients
- Occasional (5% to 29% of cases)
- Short statureHPOHP:0004322
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- GlaucomaHPOHP:0000501
- 4 of 5 reported patients
- Frequent (30% to 79% of cases)
- Delayed skeletal maturationHPOHP:0002750
- 2 of 3 reported patients
- Occasional (5% to 29% of cases)
- HypothyroidismHPOHP:0000821
- 2 of 3 reported patients
- OligodontiaHPOHP:0000677
- 2 of 3 reported patients
- Occasional (5% to 29% of cases)
- Wide nasal bridgeHPOHP:0000431
- 2 of 3 reported patients
- Occasional (5% to 29% of cases)
- Abnormal facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
Show the remaining 32
- Abnormality of mucopolysaccharide metabolismHPOHP:0011020
- Frequent (30% to 79% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
- Abnormality of the frontal hairlineHPOHP:0000599
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- 3 of 5 reported patients
- Frequent (30% to 79% of cases)
- HypercalcemiaHPOHP:0003072
- Frequent (30% to 79% of cases)
- NephrocalcinosisHPOHP:0000121
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PIK3C2AHGNC:8971
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021