Jansen-De Vries Syndrome

Alternative Names

  • JDVS
  • Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number


Mode of Inheritance

Autosomal dominant Autosomal recessive

Gene Map Locus



Jansen-de Vries syndrome (JDVS) is an autosomal dominant 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. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
617450.1Saudi ArabiaFemaleYes Global developmental delay; SeizureNM_003620.4:c.939_940delHomozygousAutosomal, RecessiveMonies et al. 2019
© CAGS 2024. All rights reserved.