pontocerebellar hypoplasia type 13

A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heter

A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heterozygous mutation in the VPS51 gene on chromosome 11q13.1.

Signs and symptoms

• Epicanthus
• Pleural effusion
• Inability to walk
• Strabismus
• Decreased liver function
• Anteverted nares
• Low posterior hairline
• Volvulus
• Generalized hypotonia
• Hypoplasia of the pons

Also known as: PCH13