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CRASH

[CRASH syndrome]

an acronym standing for corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus (Fransen et al, 1995, 1998). All different manifestations of this syndrome can be present within the same family of afflicted patients. The underlying cause is mutations in the neural adhesion molecule L1CAM (CD171). Thus, this set of clinical manifestations is being referred to also as L1 syndrome (Fransen et al, 1995, 1998; Yamasaki et al, 1997; Kamiguchi et al, 1998) (see also: HSAS, MASA, SPG1, ACC).

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