pontocerebellar hypoplasia type 14

A pontocerebellar hypoplasia characterized by congenital onset of progressive microcephaly, poor or absent psychomotor development, and severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PP

A pontocerebellar hypoplasia characterized by congenital onset of progressive microcephaly, poor or absent psychomotor development, and severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PPIL1 gene on chromosome 6p21.2.

Signs and symptoms

• Cerebellar hypoplasia
• Hypoplasia of the brainstem
• Agenesis of corpus callosum
• Motor delay
• Delayed early-childhood social milestone development
• Severe intellectual disability
• Hypoplasia of the pons
• Spastic tetraplegia
• Absent speech
• Brisk reflexes

Also known as: PCH14