GM1 gangliosidosis type 2

info · Genetic

A GM1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age.

Signs and symptoms

Protruding tongue
Narrow mouth
Hepatomegaly
Generalized hypotonia
Coarse facial features
Flat face
Failure to thrive
Hypoplastic vertebral bodies
Patent ductus arteriosus
Gingival overgrowth

Also known as: juvenile GM1 gangliosidosis