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L1 syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.
Mondo Term and Equivalent IDs
MONDO:0017140:  L1 syndrome
GARD:0012524: 
Orphanet:275543: 
UMLS:CN118845: