/intellectual developmental disorder with gastrointestinal difficulties and high pain threshold

intellectual developmental disorder with gastrointestinal difficulties and high pain threshold

Rare Disease

MONDO:0044318

Also Known As

Jansen de Vries syndromeintellectual developmental disorder with gastrointestinal difficulties and high pain thresholdIDDGIP

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}).