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GTR Home > Conditions/Phenotypes > PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome

PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome

Synonyms
CHUNG-JANSEN SYNDROME; DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Chung-Jansen syndrome (CHUJANS) is characterized by global developmental delay apparent from infancy, impaired intellectual development or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity. The severity of the phenotype and additional features are variable (summary by Jansen et al., 2018). [from OMIM]

Available tests

10 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BRWD2, CHUJANS, DCAF14, DIDOD, WDR11, ndrp, PHIP
    Summary: pleckstrin homology domain interacting protein

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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