Catalog

L1 syndrome

No MMS code

Link to WHO Definition

L1 syndrome – http://id.who.int/icd/entity/1457804873

L1 syndrome is a mild to severe congenital X-linked developmental disorder characterised 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, MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.