pontocerebellar hypoplasia type 2E

A pontocerebellar hypoplasia that is characterized by profoundly impaired intellectual development, progressive microcephaly, spasticity, and early-onset epilepsy that has_material_basis_in compound heterozygous mutation in the VPS53 gene on chromosome 17p13.

Signs and symptoms

• Epicanthus
• Hypertonia
• Narrow forehead
• Strabismus
• Cerebellar atrophy
• Short nose
• Infantile spasms
• Facial telangiectasia
• Intellectual disability
• Large earlobe