L1 syndrome
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:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0021147
disorder of development or morphogenesis
is_a
CRASH syndrome
exact
L1 syndrome
exact
L1CAM syndrome
exact
corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome
exact