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GENATLAS PHENOTYPE
last update : 27-08-2019
Symbol NDDMH
Location 17q11.2
Name Neurodevelopmental Disorder with muscular hypotonia
Corresponding gene TAOK1
Main clinical features
  • neurodevelopmental delay and intellectual disability, muscular hypotonia
  • developmental delay affecting speech and language development and/or motor development, with abnormal facial shape
  • Genetic determination not applicable
    Function/system disorder mental retardation
    neuromuscular
    Type disease
    Remark(s)