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GENATLAS PHENOTYPE
last update : 12-10-2015
Symbol EHLMRS
Location 4q28.1
Name epilepsy, hearing loss, and mental retardation syndrome
Corresponding gene SPATA5
Main clinical features
  • severe neurologic impairment including intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss
  • most affected individuals are nonambulatory, cannot sit unassisted, and have no speech development
  • microcephaly, developmental delay, intellectual disability, hypotonia, spasticity, seizures, sensorineural hearing loss, cortical visual impairment
  • abnormal EEG, and brain MRI was often abnormal, showing variable diffuse atrophy, cortical atrophy, thin corpus callosum, and hypomyelination
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    ear
    mental retardation
    Type disease
    Remark(s)