L1 Syndrome - Symptoms, Causes, Treatment | NORD
2018年5月9日 · L1 syndrome is caused by mutations in the L1CAM gene located on the X chromosome. An abnormal gene on the X chromosome causes X-linked disorders, such as L1 syndrome. Normal females have two X chromosomes, in which one is activated chromosome and the other is inactivated.
L1 Syndrome - GeneReviews® - NCBI Bookshelf - National …
2004年4月28日 · L1 syndrome comprises three clinical phenotypes ranging from severe to mild; its major features are hydrocephalus, intellectual disability, spasticity of the legs, and adducted thumbs. To date, more than 280 individuals have been identified with a pathogenic variant in L1CAM [Vos et al 2010, Vos & Hofstra 2010].
L1 syndrome | About the Disease | GARD - Genetic and Rare …
A rare, congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs.
L1 syndrome - Wikipedia
L1 syndrome is a group of mild to severe X-linked recessive disorders that share a common genetic basis. The spectrum of L1 syndrome disorders includes X-linked complicated corpus callosum dysgenesis, spastic paraplegia 1, MASA syndrome, and X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS).
L1 syndrome - MedlinePlus
L1 syndrome is caused by mutations in the L1CAM gene. The L1CAM gene provides instructions for producing the L1 cell adhesion molecule protein (shortened to L1 protein), which is found throughout the nervous system.
L1 syndrome - National Organization for Rare Disorders
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.
Orphanet: L1 syndrome
L1 syndrome is caused by mutations in the L1CAM gene (Xq28) encoding the L1 cell adhesion molecule that is expressed mainly in the developing nervous system. More than 240 different mutations have been reported to date, possibly explaining the wide clinical spectrum.
L1CAM gene - MedlinePlus
More than 350 mutations in the L1CAM gene have been found to cause L1 syndrome. L1 syndrome describes a group of conditions that vary in severity, primarily affect the nervous system, and occur almost exclusively in males.
X-linked Hydrocephalus (L1 Syndrome) | MedLink Neurology
1996年6月17日 · The clinical spectrum of L1 syndrome comprises 3 major disorders, namely X-linked hydrocephalus (XLH), MASA syndrome (mental retardation, adducted thumbs, shuffling gait, aphasia) and spastic paraplegia type I (SPG1). L1CAM mutations are the cause of most cases of “congenital absence of pyramids”.…
L1CAM gene mutations that cause L1 syndrome lead to an L1 protein that cannot facilitate cell-cell adhesion or participate in various neuronal functions. Disruption of these functions likely impedes the growth and development of the brain, leading to the signs and symptoms of …