Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 15-02-2012
Symbol MGC1
Location Xq22-q23
HGNC id 7052
Name megalocornea 1
Corresponding gene CHRDL1
Other symbol(s) XMC, MGCN
Main clinical features
  • thin cornea of increased diameter (generally >12.5 mm at birth) and a very deep anterior chamber but no increase in intraocular pressure
  • heterozygous women may show slight increase in corneal diameter
  • superior cognitive ability despite a striking focal loss of myelination of white matter
  • Genetic determination sex linked
    Function/system disorder eye
    Type disease