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GENATLAS PHENOTYPE
last update : 25-01-2012
Symbol MYHRS
Location 18q21.2
Name Myhre syndrome
Corresponding gene SMAD4
Main clinical features
  • developmental disorder characterized by reduced growth, generalized muscular hypertrophy, facial dysmorphism, deafness, cognitive deficits, joint stiffness, and skeletal anomalies
  • cleft lip and/or palate, congenital heart defects, stiff skin, cryptorchidism, hypertension, and ocular defects, hearing loss
  • Genetic determination not applicable
    Function/system disorder ear
    osteo-articular
    mental retardation
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s)