Conditions / Genetic
pontocerebellar hypoplasia type 2D
info · Genetic · ICD-10: Q04.3
A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene.
Signs and symptoms
- Seizure
- Global developmental delay
- Appendicular spasticity
- Paroxysmal tonic upgaze
- Cerebellar vermis atrophy
- Progressive microcephaly
- Spastic tetraplegia
- Clonus
- Cerebral atrophy
- Hypoplasia of the corpus callosum