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GENATLAS PHENOTYPE
last update : 27-02-2009
Symbol SOPT
Location 3p14.3
Name septooptic dysplasia
Other name(s) De Morsier syndrome
Corresponding gene HESX1
Main clinical features
  • defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia and midline abnormalities of the brain such as absence of the corpus callosum and septum pellucidum
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Gene product
    Name homeo box paired-like, class 1 (HESX1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   unknown disruption of DNA binding or of protein stability
    Remark(s)