Term Name: GM1 gangliosidosis type 1
Synonyms:
Definition: 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.
Ontology: Human Disease [DOID:0080502]   ( DOID:0080502 )

Relationships
is a type of: GM1 gangliosidosis