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Browse result for MASA syndrome

※ introduction

    MASA syndrome is a rare X-linked recessive neurological disorder on the L1 disorder spectrum belonging in the group of hereditary spastic paraplegias a paraplegia known to increase stiffness spasticity in the lower limbs. This syndrome also has two other names, CRASH syndrome and Gareis-Mason syndrome.

Reference
Wiki: MASA syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD04839P320043897
L1CAM
Neural cell adhesion molecule L1
Homo sapiens