1. Mendelian
  2. Rare Diseases
  3. MYOPATHY, MITOCHONDRIAL, AND ATAXIA; MMYAT

Myopathy, Mitochondrial, And Ataxia; Mmyat

Genes related to Myopathy, Mitochondrial, And Ataxia; Mmyat

  • MSTO1

Clinical Features

Top most frequent phenotypes and symptoms related to Myopathy, Mitochondrial, And Ataxia; Mmyat

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Growth delay
  • Micrognathia
  • Motor delay
  • Muscle weakness
And another 45 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Not enough data available about incidence and published cases.


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Myopathy, Mitochondrial, And Ataxia; Mmyat Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MSTO1.

By Fulgent Genetics Fulgent Genetics in United States.

MSTO1
Specificity
100 %
Genes
100 %

Alternate names

Myopathy, Mitochondrial, And Ataxia; Mmyat Is also known as ;mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome.


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