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Joubert syndrome 1

Synonyms
Cerebellooculorenal syndrome 1; INPP5E-Related Joubert Syndrome

Summary

Excerpted from the GeneReview: Joubert Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Melissa Parisi
Ian Glass
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Available tests

45 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (45 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CORS1, CPD4, JBTS1, MORMS, PPI5PIV, pharbin, INPP5E
    Summary: inositol polyphosphate-5-phosphatase E

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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