Isolated cerebellar hypoplasia/agenesis
MONDO:0008939Hypoplasia 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.
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Disease
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Nervous system disorder
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Hereditary disease
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Human disease
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Hereditary neurological disease
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Disease of genetic or genomic mechanism
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Congenital nervous system disorder
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