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GENATLAS PHENOTYPE
last update : 04-04-2012
Symbol KSTS
Location 16p13.3
Name Kohlschutter-Tonz syndrome
Corresponding gene ROGDI
Main clinical features
  • combination of epilepsy, psychomotor regression, and amelogenesis imperfecta
  • global developmental delay, spasticity, epilepsy, and amelogenesis imperfecta
  • severe psychomotor delay or regression, which might be present after birth but more frequently develops after the onset of seizures
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    dermatology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   truncated protein nonsense mutation (c.469C>T in exon 7) causing a premature stop codon (PMID: 22482807)
    Remark(s)