isolated cerebellar hypoplasia/agenesis
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.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0021147
disorder of development or morphogenesis
is_a
MONDO:0100545
hereditary neurological disease
is_a
Chiari 4 malformation
exact
Chiari IV malformation
exact
cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay
exact
congenital cerebellar Hypoplasia
exact
near total absence of cerebellum
exact
subtotal absence of cerebellum
exact
SPAC8C9.16c