GM1 gangliosidosis type 1

Term ID

DOID:0080502

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. https://omim.org/entry/230500

References

• GARD:6479
• OMIM:230500
• ORDO:79255

Ontology

Human Disease   ( DOID:0080502 )