galactosialidosis

info · Genetic

A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13.

Signs and symptoms

Intellectual disability
Severe short stature
Opacification of the corneal stroma
Hearing impairment
Seizure
Nonimmune hydrops fetalis
Cherry red spot of the macula
Visceromegaly
Coarse facial features
Decreased beta-galactosidase activity