Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 07-03-2009
Symbol CRDAI
Location 2q11.2
Name cone rod dystrophy of the retina with amelogenesis imperfecta
Other name(s) Jalili Syndrome (Parry 2009)
Corresponding gene CNNM4
Main clinical features
  • photophobia and nystagmus, starting in the first two years of life, and achromatopsia, without night blindness and teeth abnormally shaped and discolored as soon as they erupted
  • teeth dysplastic and yellow and brown in color, showing no enamel layer and numerous carious lesions
  • Genetic determination autosomal recessive
    Function/system disorder eye
    dermatology
    Type disease
    Remark(s)