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  • Joubert Syndrome: What It Is, Causes, Symptoms Treatment
    Joubert syndrome is a rare genetic disorder that happens when the part of a fetus’s brain doesn’t develop as it should The syndrome has many subtypes that cause different symptoms, but it typically causes issues with muscle control or muscle tone, breathing and eye movement
  • Joubert syndrome | About the Disease | GARD - Genetic and Rare Diseases . . .
    Joubert syndrome is caused by genetic mutations, also known as pathogenic variants Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing
  • Joubert syndrome - Wikipedia
    It is commonly found in Ashkenazi Jewish, French-Canadians, and Hutterite ethnic populations Most cases of Joubert syndrome are autosomal recessive; in these cases, both parents are either carriers or affected Rarely, Joubert syndrome is inherited in an X-linked recessive pattern
  • Joubert syndrome: MedlinePlus Genetics
    Joubert syndrome is a condition that affects the development of the brain This condition can also impact many other parts of the body The signs and symptoms seen in people with Joubert syndrome can vary, even among members of the same family
  • Joubert Syndrome - EyeWiki
    Joubert syndrome (JS) is a rare, genetically heterogeneous disorder belonging to a group of inherited diseases caused by defect (s) in the primary cilia, which are also known as ciliopathies The disease affects multiple organs, including the eye, kidney, and brain
  • What is Joubert Syndrome? - Joubert Syndrome Related Disorders Foundation
    What is Joubert Syndrome? Joubert syndrome is a rare genetic disorder characterized by decreased muscle tone, difficulties with coordination, abnormal eye movements, abnormal breathing patterns, and intellectual disability
  • Joubert Syndrome Symptoms and Treatment - Verywell Health
    Joubert syndrome is a genetic disorder that affects the brain's control of balance and coordination Learn about its symptoms, diagnosis, and treatment
  • Joubert Syndrome - UW Hindbrain Malformation Research Program
    What is Joubert Syndrome? Joubert syndrome is a neurogenetic disorder characterized by hypotonia, developmental disability, abnormal breathing pattern, abnormal eye movements, and a distinctive brain malformation giving the appearance of "the molar tooth sign" on axial brain MRI
  • Joubert Syndrome - Symptoms, Causes, Treatment | NORD
    Learn about Joubert Syndrome, including symptoms, causes, and treatments If you or a loved one is affected by this condition, visit NORD to find resources
  • Joubert Syndrome - GeneReviews® - NCBI Bookshelf
    The term "Joubert syndrome and related disorders" (JSRD) has been used in the past to describe conditions that share the molar tooth sign and the clinical features of classic Joubert syndrome and also have other organ system involvement





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