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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 19-09-2016
Symbol MGMD
Location 11q23.3
Name micrognathia, short stature, microcephalic dwarfism
Corresponding gene ARCN1
Main clinical features
  • craniofacial disorder characterized by facial dysmorphisms, severe micrognathia, rhizomelic shortening, microcephalic dwarfism, and mild developmental delay, joint laxity
    • Genetic determination
    Function/system disorder osteo-articular
    mental retardation
    neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function  
    Remark(s)
  • likely involvement of ER stress response in the pathogenesis of this disorder (PMID: 27476655))