L1CAM, L1 cell adhesion molecule, 3897

N. diseases: 289; N. variants: 35
Disease: Dysgenesis of corpus callosum ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431369
Disease: Dysgenesis of corpus callosum
Dysgenesis of corpus callosum 		0.010 Biomarker disease BEFREE L1CAM molecule is a cell adhesion molecule in nervous and enteric systems and is responsible for X-linked hydrocephalus (XLH) spectrum, which is a rare condition with severe congenital hydrocephalus, dysgenesis of the corpus callosum, intellectual disability, spasticity, and adducted thumbs. 22354677 2012