Isolated cerebellar hypoplasia/agenesis

Isolated cerebellar hypoplasia/agenesis

Definition

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 hypoplasia/atrophy, epilepsy, and global developmental delay, Chiari 4 malformation, Chiari IV malformation, congenital cerebellar Hypoplasia, near total absence of cerebellum, subtotal absence of cerebellum — per MONDO

Also identified as

Affected Organs

Organ Involvement Source
Brain Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Brain Disease Has Primary Anatomic Site NCIT · CC BY 4.0
Central nervous system Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Central nervous system Disease Has Primary Anatomic Site NCIT · CC BY 4.0
Nervous system Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Nervous system Disease Has Primary Anatomic Site NCIT · CC BY 4.0