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GENATLAS PHENOTYPE

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

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