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Isolated cerebellar hypoplasia/agenesis

MONDO:0008939

Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.

Also known as: Cerebellar Agenesis, Chiari 4 malformation, Chiari IV malformation, cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, congenital cerebellar Hypoplasia, near total absence of cerebellum, subtotal absence of cerebellum, cerebellar hypoplasia

1 clinical trial for this condition and its sub-types, 1 tagged with Isolated cerebellar hypoplasia/agenesis itself.

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