Overview
Joubert syndrome with renal 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
Cerebellar vermis hypoplasia
Very frequent (80-99%)HP:0001320
Kidney disease
Very frequent (80-99%)HP:0000112
Mental-retardation
Very frequent (80-99%)HP:0001249
Molar tooth sign
Very frequent (80-99%)HP:0002419
Muscular hypotonia
Very frequent (80-99%)HP:0001252
Oculomotor apraxia
Very frequent (80-99%)HP:0000657
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Decreased width of the skull
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
Posteriorly angulated ears
Frequent (30-79%)HP:0000358
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 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
Iris coloboma
Occasional (5-29%)HP:0000612
More grooves in brain
Occasional (5-29%)HP:0002126
Nonsyndromal hydrocephalus
Occasional (5-29%)HP:0000238
Nostrils anteverted
Occasional (5-29%)HP:0000463
Oral cleft
Occasional (5-29%)HP:0000202
Polydactyly of the hand
Occasional (5-29%)HP:0001161
Related Conditions
Quick Facts
- SNOMED CT
- 716999001
- UMLS CUI
- C4274117
- Fully Specified Name
- Joubert syndrome with renal 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.