pontocerebellar hypoplasia type 5

A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.

Signs and symptoms

• Olivopontocerebellar hypoplasia
• Microcephaly
• Seizure