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Cerebellar Hypoplasia MeSH Supplementary Concept Data 2022


MeSH Supplementary
Cerebellar Hypoplasia
Unique ID
C562568
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C562568
Registry Number
0
Heading Mapped to
Cerebellum / *abnormalities
Developmental Disabilities
*Nervous System Malformations
Frequency
152
Note
A rare congenital abnormality where the cerebellum is either absent or is significantly smaller than average. Affected individuals may have nystagmus, HYPOTONIA; ATAXIA; TREMOR; SEIZURES, and INTELLECTUAL DISABILITIES. Familial studies suggest autosomal recessive inheritance. OMIM: 213000
Date of Entry
2012/11/05
Revision Date
2015/08/18
Cerebellar Hypoplasia Preferred
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