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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 24-08-2020
Symbol IMMAS
Location 17q11.2
Name Imagawa-Matsumoto syndrome
Other name(s) Weaver-like syndrome
Corresponding gene SUZ12
Other symbol(s) WVLS
Main clinical features
  • postnatal macrocephaly, prominent forehead, round face, hypertelorism, downslanting palpebral fissures, and low and broad nasal bridge, variable musculoskeletal abnormalities
  • developmental delay and impaired intellectual development are common
  • Genetic determination
    Function/system disorder
    Type disease
    Remark(s)