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GENATLAS PHENOTYPE
last update : 27-06-2019
Symbol COFD7
Location 12q24.31
Name Combined oxidative phosphorylation deficiency 7
Corresponding gene C12orf65
Main clinical features
  • encephalomyopathy, psychomotor regression, severe optic atrophy, decreased vision, nystagmus, bulbar paresis, lesions in the thalami, brainstem and medulla spinalis PMID:20598281
    • Genetic determination autosomal recessive
    Function/system disorder multisystem/generalized
    Type disease
    Gene product
    Name chromosome 12 open reading frame 65
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift   truncated protein 248delT, 210delA PMID:20598281
    Remark(s)
  • C-terminal mutations may result in a more favorable phenotype, typically lacking cognitive impairment (PMID: 24424123))