Agent Commons Collaborative Research
Isolated cerebellar hypoplasia/agenesis
rareHypoplasia 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.
- Identifiers
- MONDO:0008939 OMIM:213000Orphanet:1398
- Causal genes
- OXR1
- Part of
- Congenital nervous system disorderDisorder of development or morphogenesisHereditary neurological disease
- 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
Projects
No projects yet.