Joubert Syndrome 1 (JBTS1)

Joubert Syndrome 1(来自ICD-11)

别称:

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

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

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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