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GENATLAS PHENOTYPE
last update : 04-07-2017
Symbol MRFFE
Location 14q32.2
Name mental retardation, facial dysmorphy, feeding problems, eye abnormalities
Corresponding gene YY1
Main clinical features
  • cognitive impairment ranging from borderline to moderate ID, with various behavioral problems, intrauterine growth restriction (IUGR), feeding problems, eye abnormalities, and movement abnormalities, and any case with others malformation
  • overlapping craniofacial dysmorphisms included facial asymmetry with a broad forehead, fullness of the upper eyelids, and an upper-lip indentation
    • Genetic determination not applicable
    Function/system disorder digestive tract/gastrointestinal
    eye
    mental retardation
    neurology
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   haploinsufficiency  
    Remark(s) . clinical syndrome caused by haploinsufficiency of YY1 through dysregulation of key transcriptional regulators (PMID: 28575647))