Assertion: joubert syndrome | /r/HasAspect | occipital encephalocele
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Source sentences:
text: (JSRD) refers to those with Joubert syndrome who have additional findings such as retinal dystrophy, renal (kidney) disease, ocular colobomas, occipital encephalocele (protruding tissue at the back of the skull), fibrosis of the liver, polydactyly , and/or other abnormalities.