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Agenesis of Cerebellar Vermis [Supplementary Concept]

A clinically and genetically heterogeneous group of disorders. Brain imaging of patients shows a distinct "molar tooth sign." In infants, symptoms include hypotonia, breathing, and eye movement abnormalities, and characteristic facial features. Germline mutations in more than 10 different genes account for half all cases, including, TMEM216, TMEM237, AHI1, NPHP1, CEP290, INPP5E, and CSPP1 genes. OMIM: 213300

Date introduced: August 25, 2010

MeSH Unique ID: C536293

Heading Mapped to:

Entry Terms:

  • Cerebello-Oculo-Renal Syndrome
  • Cerebelloparenchymal Disorder IV
  • Cerebellar vermis agenesis
  • Joubert-Boltshauser syndrome
  • Joubert Syndrome
  • Familial Aplasia of the Vermis
  • Cerebelloparenchymal disorder 4
  • Joubert syndrome 1
  • Cerebellooculorenal syndrome 1

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