Overview
Oculocerebrodental syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cognitive delay
Always present (100%)HP:0001263
Mucopolysacchariduria
Always present (100%)HP:0008155
Abnormality of mucopolysaccharide metabolism
Frequent (30-79%)HP:0011020
Abnormality of the frontal hairline
Frequent (30-79%)HP:0000599
Cataract, congenital
Frequent (30-79%)HP:0000519
Cerebral vascular events
Frequent (30-79%)HP:0001297
Cryptorchidism
Frequent (30-79%)HP:0000028
Decreased body height
Frequent (30-79%)HP:0004322
Dental problems
Frequent (30-79%)HP:0000164
Funny looking face
Frequent (30-79%)HP:0001999
Glaucoma
Frequent (30-79%)HP:0000501
Hypercalcemia
Frequent (30-79%)HP:0003072
Hypoacusis
Frequent (30-79%)HP:0000365
Hypothyroidism
Frequent (30-79%)HP:0000821
Lacunar stroke
Frequent (30-79%)HP:0032325
Nephrocalcinosis
Frequent (30-79%)HP:0000121
Neurodevelopmental delay
Frequent (30-79%)HP:0012758
Specific learning disability
Frequent (30-79%)HP:0001328
Thickened facial skin with coarse facial features
Frequent (30-79%)HP:0000280
Abnormal thalamus morphology
Occasional (5-29%)HP:0010663
Broad flat nasal bridge
Occasional (5-29%)HP:0000431
Clinodactyly
Occasional (5-29%)HP:0030084
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Decreased width of tooth
Occasional (5-29%)HP:0000691
Dysplasia of corpus callosum
Occasional (5-29%)HP:0006989
Enamel, underdeveloped
Occasional (5-29%)HP:0006297
Flat nasal bridge
Occasional (5-29%)HP:0005280
Focal white matter lesions
Occasional (5-29%)HP:0007042
Hearing loss, conductive
Occasional (5-29%)HP:0000405
Hyperplasia of columella
Occasional (5-29%)HP:0010761
Related Conditions
Hereditary disorder of tooth(parent)
Small stature(parent)
Developmental delay(parent)
Dysplasia with defective mineralization(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Hereditary disorder of the visual system(parent)
Congenital anomaly of tooth(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Congenital cataract(parent)
Recessive hereditary disorder (autosomal)(parent)
Hereditary disorder of nervous system(parent)
Encephalopathy(parent)
Quick Facts
- SNOMED CT
- 1255268002
- UMLS CUI
- C5193101
- Fully Specified Name
- Oculocerebrodental syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.