pontocerebellar hypoplasia type 2C

A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene.

Signs and symptoms

• Cerebellar vermis hypoplasia
• Microcephaly
• Dystonia
• Cerebellar hemisphere hypoplasia
• Chorea
• Visual impairment