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Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

Disease definition

A rare genetic disease characterized by microcephaly, global developmental delay, intellectual disability, abnormal muscle tone, and sensorineural hearing impairment. Additional variable manifestations include epilepsy, cortical visual impairment, gastrointestinal disturbances, growth restriction, scoliosis, as well as immunodeficiency and thrombocytopenia. Brain imaging may show cerebral atrophy, thin corpus callosum, and hypomyelination.


Classification level: Disorder
  • Synonym(s):
    • Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: -
  • OMIM: 616577
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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