Overview
Joubert 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.
Curvature of digit
Always present (100%)HP:0030084
Delay in head control
Always present (100%)HP:0002421
Delayed ability to sit
Always present (100%)HP:0025336
Delayed ability to walk
Always present (100%)HP:0031936
Generalised decreased muscle tone
Always present (100%)HP:0001290
Kidney damage
Always present (100%)HP:0000112
Molar tooth sign
Always present (100%)HP:0002419
Speech difficulties
Always present (100%)HP:0000750
Abnormal respiratory patterns
Very frequent (80-99%)HP:0002793
Apnea
Very frequent (80-99%)HP:0002104
Ataxia
Very frequent (80-99%)HP:0001251
Cerebellar vermis hypoplasia
Very frequent (80-99%)HP:0001320
Defective or absent horizontal voluntary eye movements
Very frequent (80-99%)HP:0000657
Episodic tachypnea
Very frequent (80-99%)HP:0002876
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Nonprogressive mental retardation
Very frequent (80-99%)HP:0001249
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Decreased width of the skull
Frequent (30-79%)HP:0004422
Feeding difficulties in infancy
Frequent (30-79%)HP:0008872
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
Abnormal vertebral bodies
Occasional (5-29%)HP:0003312
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Abnormality of neuronal migration
Occasional (5-29%)HP:0002269
Abnormality of the hypothalamus-pituitary axis
Occasional (5-29%)HP:0000864
Aganglionic megacolon
Occasional (5-29%)HP:0002251
Bifid skull
Occasional (5-29%)HP:0002084
Cleft lip, cleft palate
Occasional (5-29%)HP:0000202
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Related Conditions
Joubert syndrome with ocular defect(child)
Joubert syndrome with renal defect(child)
Joubert syndrome with hepatic defect(child)
Joubert syndrome with oculorenal defect(child)
Joubert syndrome with orofaciodigital defect(child)
Joubert syndrome with JATD (Jeune asphyxiating thoracic dystrophy)(child)
Recessive hereditary disorder (autosomal)(parent)
Familial aplasia of the vermis(parent)
Hereditary disorder of nervous system(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 716997004
- UMLS CUI
- C5979921
- Fully Specified Name
- Joubert 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.