Conditions / Nervous system
pontocerebellar hypoplasia type 8
info · Nervous system · ICD-10: Q04.3
A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene.
Signs and symptoms
- Global developmental delay
- Reduced cerebral white matter volume
- Hypoplasia of the corpus callosum
- Cerebellar hypoplasia
- Reduced social responsiveness
- Poor speech
- Intellectual disability
- Absent speech
- Dysphagia
- Delayed ability to walk