pontocerebellar hypoplasia type 1C

info · Genetic

A pontocerebellar hypoplasia type 1 characterized by severe muscle weakness and failure to thrive apparent in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC8 gene on chromosome 13q13.3.

Signs and symptoms

Global developmental delay
Respiratory insufficiency
Respiratory failure
Hearing impairment
Visual impairment
Skeletal muscle atrophy
Spastic tetraparesis
Feeding difficulties
Muscle weakness
Cerebellar vermis hypoplasia

Also known as: PCH1C