Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
Definition
IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017}).
Also known as intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Jansen de Vries syndrome — per MONDO