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GENATLAS PHENOTYPE
last update : 17-01-2009
Symbol NSOC
Location 7q36.3
Name non-syndromic colobomatous microphthalmia
Other name(s)
  • coloboma uveoretinal
  • microphthalmia, isolated, with coloboma 5
    • Corresponding gene SHH
    Other symbol(s) MCOPCB5
    Main clinical features
  • typically located in the inferonasal part of the iris, inferonasal bilateral coloboma of the iris and ciliary body without coloboma of the choroid and retina or optic nerve
    • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Remark(s)