Overview
Joubert syndrome with ocular defect 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.
Abnormal respiratory patterns
Very frequent (80-99%)HP:0002793
Apnea
Very frequent (80-99%)HP:0002104
Ataxia
Very frequent (80-99%)HP:0001251
Breakdown of light-sensitive cells in back of eye
Very frequent (80-99%)HP:0000556
Central hypotonia
Very frequent (80-99%)HP:0001252
Cerebellar vermis hypoplasia
Very frequent (80-99%)HP:0001320
Defective or absent horizontal voluntary eye movements
Very frequent (80-99%)HP:0000657
Dull intelligence
Very frequent (80-99%)HP:0001249
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Molar tooth sign
Very frequent (80-99%)HP:0002419
Biparietal narrowing
Frequent (30-79%)HP:0004422
Feeding difficulties
Frequent (30-79%)HP:0011968
Gait disturbance
Frequent (30-79%)HP:0001288
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Vertical enlargement of face
Frequent (30-79%)HP:0000276
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Abnormality of the hypothalamus-pituitary axis
Occasional (5-29%)HP:0000864
Absence of corpus callosum
Occasional (5-29%)HP:0001274
Aganglionic megacolon
Occasional (5-29%)HP:0002251
Bifid skull
Occasional (5-29%)HP:0002084
Cleft lip, cleft palate
Occasional (5-29%)HP:0000202
Cleft of palate
Occasional (5-29%)HP:0000175
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Eye drop
Occasional (5-29%)HP:0000508
Heart tip and four chambers point towards right side of body
Occasional (5-29%)HP:0001651
Hole in the back of the eye
Occasional (5-29%)HP:0000480
Iris coloboma
Occasional (5-29%)HP:0000612
More grooves in brain
Occasional (5-29%)HP:0002126
Multiple vertebral anomalies
Occasional (5-29%)HP:0003468
Nonsyndromal hydrocephalus
Occasional (5-29%)HP:0000238
Quick Facts
- SNOMED CT
- 716998009
- UMLS CUI
- C4274118
- Fully Specified Name
- Joubert syndrome with ocular defect (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.