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GENATLAS PHENOTYPE
last update : 15-06-2011
Symbol IDMDC
Location 8p11.23
Name recessive intellectual disability, motor dysfunction and multiple joint contractures
Corresponding gene ERLIN2
Main clinical features
  • severe ID, postnatal onset progressive multiple joint contractures resulting in specific postures and severe motor dysfunction
  • electron microscopy in leukocytes revealed large vacuoles containing flocculent material
    • Genetic determination autosomal recessive
    Prevalence 1 family with 12 patients
    Function/system disorder
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift   truncated protein  
    Remark(s)