Conditions / Nervous system
pontocerebellar hypoplasia type 3
info · Nervous system
A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene.
Signs and symptoms
- Cerebellar atrophy
- Seizure
- Hypoplasia of the pons
- Atrophy/Degeneration affecting the brainstem
- Hyperreflexia
- Axial hypotonia
- Cerebral atrophy
- Hypoplasia of the corpus callosum
- Global developmental delay
- Reduced cerebral white matter volume