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GENATLAS PHENOTYPE
last update : 16-05-2018
Symbol MMDS6
Location 7q22.1
Name multiple mitochondrial dysfunctions syndrome 6
Corresponding gene PMPCB
Main clinical features
  • Leigh-like neurodegeneration in childhood with prominent cerebellar atrophy
  • severe neurodegenerative disorder with onset in early childhood; affected individuals may have initial normal development, but show neurologic regression in the first year of life; hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity; some patients may die in childhood
  • also generalized tonic-clonic seizures in the setting of fever, epileptic spasms, tonic seizures, and focal dyscognitive seizures
  • laboratory evidence indicates that the disorder results from mitochondrial dysfunction
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    neuromuscular
    neurology
    Type MCA/MR
    Remark(s)