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ENJoubert Syndrome 1 (JBTS1)
Alias:
Joubert Syndrome
Cerebelloparenchymal Disorder Iv
Jbts
Cerebellooculorenal Syndrome 1
Familial Aplasia of the Vermis
Joubert-Boltshauser Syndrome
Joubert Syndrome and Related Disorders
Jbts1
Cors1
Cpd4
Cerebello-Oculo-Renal Syndrome
Classic Joubert Syndrome
Joubert Syndrome Type a
Pure Joubert Syndrome
Cpd Iv
Jsrd
Joubert Syndrome Related Disorders
Cerebello-Oculo-Renal Syndrome 1
Agenesis of Cerebellar Vermis
Joubert-Bolthauser Syndrome
Joubert Syndrome, Type 1
Joubert Syndrome-1
Joubert's Syndrome
Cors
Js
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Joubert Syndrome 1, also known as joubert syndrome, is related to coach syndrome 1 and orofaciodigital syndrome vi, and has symptoms including ataxia An important gene associated with Joubert Syndrome 1 is INPP5E (Inositol Polyphosphate-5-Phosphatase E), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. The drug Metronidazole has been mentioned in the context of this disorder. Affiliated tissues include brain and eye, and related phenotypes are intellectual disability and ataxia
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