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GENATLAS PHENOTYPE
last update : 17-11-2014
Symbol WDSS
Location 11q23.3
Name Wiedemann-Steiner Syndrome
Corresponding gene KMT2A
Other symbol(s) WDSTS
Main clinical features
  • pre- and postnatal growth deficiency, psychomotor delay, and a round and flat face, short nose, hypertelorism, long philtrum, short palpebral fissures, low-set ears, and high-arched palate
  • hypertrichosis cubiti associated with short stature, intellectual disability, and a distinctive facial appearance
  • alternating convergent squint, dilatation of the renal calyces, and short and thick limbs.
  • Genetic determination not applicable
    Function/system disorder mental retardation
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   haploinsufficiency  
    Remark(s)