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GENATLAS PHENOTYPE
last update : 16-05-2009
Symbol DMC
Location 18q21.1
Name Dyggve-Melchior-Clausen syndrome
Corresponding gene DYM
Main clinical features
  • short trunk dwarfism, scoliosis, microcephaly, mental retardation and radiological abnormalities
    • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    mental retardation
    Type disease
    Gene product
    Name Dyggve-Melchior-Clausen gene
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift   truncated protein  
    nonsense   truncated protein elongating or truncating mutations
    missense   abnormal protein/loss of function IVS3 194-1G > A, 938_942delTGTCT
    Remark(s)
  • profound disruption of Golgi organization is a pathogenic feature (PMID: 21280149))