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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))