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Cerebellar Hypoplasia [Supplementary Concept]

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 introduced: November 5, 2012

MeSH Unique ID: C562568

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