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References OMIM Gene GeneReviews HGMD HGNC
last update : 07-03-2018
Symbol MTCMR
Location 1p36.12
Name macrothrombocytopenia and mntal retardation
Other name(s) Takenouchi-Kosaki syndrome
Corresponding gene CDC42
Other symbol(s) TKS
Main clinical features
  • macrothrombocytopenia, lymphedema, and developmental delay
  • facial dysmorphism with arched eyebrows, mild ptosis, eversion of lateral portion of lower eyelid, exotropia, midface hypoplasia, short philtrum, thin upper lip, malocclusion, and camptodactyly, ventriculomegaly
  • hearing/vision problems, cardiac malformations, immune, hematologic, and lymphatic
  • abnormalities, and brain malformations (MRI brain anomalies)
    Genetic determination other
    Function/system disorder hematology
    mental retardation
    Type disease