GM1 gangliosidosis type 1

A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early de

A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death.

Signs and symptoms

• Coarse facial features
• Intellectual disability
• Global developmental delay
• Dysostosis multiplex
• Hypotonia
• Hepatomegaly
• Splenomegaly
• Cherry red spot of the macula
• Severe short stature
• Inguinal hernia