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Am J Med Genet. 1996 Jul 12;64(1):73-7.

The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule.

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Department of Medical Genetics, University of Antwerp, Belgium.


Mutations in the gene encoding the neuronal cell adhesion molecule L1 are responsible for several syndromes with clinical overlap, including X-linked hydrocephalus (XLH, HSAS), MASA (mental retardation, aphasias, shuffling gait, adducted thumbs) syndrome, complicated X-linked spastic paraplegia (SP 1), X-linked mental retardation-clasped thumb (MR-CT) syndrome, and some forms of X-linked agenesis of the corpus callosum (ACC). We review 34 L1 mutations in patients with these phenotypes.

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