pontocerebellar hypoplasia type 15

A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDC40 gene on chromosome 6q21.

Signs and symptoms

• Hypoplasia of the brainstem
• Delayed fine motor development
• Severe intellectual disability
• Cerebellar hypoplasia
• Delayed gross motor development
• Delayed early-childhood social milestone development
• Brisk reflexes
• Spastic tetraplegia
• Simplified gyral pattern
• Hypotonia

Also known as: PCH15