DCX, doublecortin, 1641

N. diseases: 175; N. variants: 107
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431379
Disease: Laminar heterotopia
Laminar heterotopia
0.010 GeneticVariation disease BEFREE Mutations in the X-linked gene doublecortin, which encodes a protein with no dear structural homologues, are found in pedigrees in which affected females show "double cortex" syndrome (DC; also known as subcortical band heterotopia or laminar heterotopia) and affected males show X-linked lissencephaly. 9989615 1999