pontocerebellar hypoplasia type 1E

A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25

A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A46 gene on chromosome 5q22.1.

Signs and symptoms

• Cerebellar hypoplasia
• Severe global developmental delay
• Hypoplasia of the pons
• Respiratory failure requiring assisted ventilation
• Polyhydramnios
• Cerebellar atrophy
• Sensorimotor neuropathy
• Optic atrophy
• Neonatal hypotonia
• Myoclonus

Also known as: PCH1E