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GENATLAS PHENOTYPE
last update : 09-05-2017
Symbol IDDGIP
Location 17q23.2
Name intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
Other name(s) mental retardation, non syndromic, with behavioral features
Corresponding gene PPM1D
Other symbol(s) MRSBF
Main clinical features
  • mild to severe ID and/or developmental delay (DD), behavioral problems, such as anxiety disorders, attention deficit hyperactivity disorder (ADHD), obsessive behavior, sensory integration problems, and autism spectrum disorder (ASD), hypotonia
  • short stature, but weight and head circumference were variable; feeding difficulties were a common feature
  • Genetic determination not applicable
    Function/system disorder mental retardation
    Type disease
    Remark(s) . de novo germline mutations in the last and penultimate exons (PMID: 28343630))