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References OMIM Gene GeneReviews HGMD HGNC
last update : 04-10-2013
Symbol CMP3D3
Location 8q24
Name complex III mitochondrial deficiency 3
Other name(s) mitochondrial complex III deficiency nuclear type 6
Corresponding gene CYC1
Other symbol(s) MC3DN6
Main clinical features
  • onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection
  • Genetic determination autosomal recessive
    Function/system disorder multisystem/generalized
    Type disease