L1 syndrome (Q101717): Difference between revisions

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Latest revision as of 18:33, 16 August 2026

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.

Language	Label	Description	Also known as
default for all languages	ID_1457804873
English	L1 syndrome	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.