National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Joubert syndrome 2



Other Names:
JBTS2; Cerebellooculorenal syndrome 2; CORS2

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Abnormal corpus callosum morphology 0001273
Abnormal renal physiology
Abnormal kidney function
Kidney function issue
[ more ]
0012211
Abnormal saccadic eye movements 0000570
Abnormality of ocular smooth pursuit 0000617
Abnormality of the foot
Abnormal feet morphology
Abnormality of the feet
Foot deformities
Foot deformity
[ more ]
0001760
Agenesis of cerebellar vermis 0002335
Ataxia 0001251
Autosomal recessive inheritance 0000007
Brainstem dysplasia 0002508
Central apnea 0002871
Chorioretinal coloboma
Birth defect that causes a hole in the innermost layer at the back of the eye
0000567
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
0005280
Dolichocephaly
Long, narrow head
Tall and narrow skull
[ more ]
0000268
Dysgenesis of the cerebellar vermis 0002195
Elongated superior cerebellar peduncle 0011933
Encephalocele 0002084
Enlarged fossa interpeduncularis 0100951
Episodic tachypnea 0002876
Esotropia
Inward turning cross eyed
0000565
Failure to thrive
Faltering weight
Weight faltering
[ more ]
0001508
Frontal bossing 0002007
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ]
0001290
Global developmental delay 0001263
High palate
Elevated palate
Increased palatal height
[ more ]
0000218
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ]
0000316
Hypoplasia of the brainstem
Small brainstem
Underdeveloped brainstem
[ more ]
0002365
Hypoplastic male external genitalia
Small male external genitalia
Underdeveloped male genitalia
[ more ]
0000050
Impaired smooth pursuit 0007772
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Low-set ears
Low set ears
Lowset ears
[ more ]
0000369
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ]
0000256
Microphthalmia
Abnormally small eyeball
0000568
Molar tooth sign on MRI 0002419
Muscular hypotonia
Low or weak muscle tone
0001252
Neonatal breathing dysregulation
Impaired breathing in newborn
0002790
Nephronophthisis 0000090
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Oculomotor apraxia 0000657
Optic nerve coloboma 0000588
Postaxial hand polydactyly
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ]
0001162
Renal cyst
Kidney cyst
0000107
Retinal dystrophy
Breakdown of light-sensitive cells in back of eye
0000556
Thickened superior cerebellar peduncle 0002404
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ]
0000505
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Joubert syndrome 2. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Joubert syndrome 2:
    JS-LIFE (Joubert Syndrome Link to Information & Family Exchange)
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease


Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources


These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Joubert syndrome 2. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles


News

Other Conferences


Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.