Cerebellar Hypoplasia

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

Source last updated 2026-05-24T15:30:09.092Z