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GENATLAS PHENOTYPE
last update : 10-05-2019
Symbol MRSSF
Location 17q23.2
Name mental retardation syndromic with speech delay and mild facial dysmorphisms
Corresponding gene MED13
Main clinical features
  • developmental delay (DD) and intellectual disability with speech delay and/or speech disorders, delays in motor development
  • overlapping facial characteristics were reported, including widely spaced eyes with narrow palpebral fissures and peri-orbital fullness, a broad and high nasal bridge, full nasal tip, synophrys, a flat philtrum and a wide mouth with thin upper lip
  • additionally a broad spectrum of other common features is seen, including ASD, ADHD, various eye abnormalities and mild facial dysmorphisms
  • Genetic determination not applicable
    Function/system disorder mental retardation
    eye
    psychiatry disorder
    Type disease
    Remark(s)