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Joubert Syndrome 25
A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that is caused by homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1
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Overview
A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that is caused by homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.