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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold

Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold

Synonyms
JANSEN-DE VRIES SYNDROME

Summary

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 (summary by Jansen et al., 2017). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: IDDGIP, JDVS, PP2C-DELTA, WIP1, PPM1D
    Summary: protein phosphatase, Mg2+/Mn2+ dependent 1D

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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