MeSH Browser

MeSH Supplementary: Agenesis of Cerebellar Vermis
Unique ID: C536293
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536293
Entry Term(s): Cerebellar vermis agenesis; Cerebello-Oculo-Renal Syndrome; Cerebellooculorenal syndrome 1; Cerebelloparenchymal Disorder IV; Cerebelloparenchymal disorder 4; Familial Aplasia of the Vermis; Joubert Syndrome; Joubert syndrome 1; Joubert-Boltshauser syndrome
Registry Numbers: 0
Heading Mapped to: *Abnormalities, Multiple; Cerebellum / abnormalities; *Eye Abnormalities; Retina / abnormalities; *Kidney Diseases, Cystic
Frequency: 342
Note: 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 of Entry: 2010/08/25
Revision Date: 2019/04/01

Agenesis of Cerebellar Vermis MeSH Supplementary Concept Data 2025