has material basis in germline mutation in
L1CAM
L1 syndrome
X-linked complicated spastic paraplegia type 1
MONDO:0017630
UMLS:CN203524
Orphanet:306617
GARD:12525
SPG1
An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain.
X-linked recessive disease