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GTR Home > Conditions/Phenotypes > DEGCAGS syndrome

DEGCAGS syndrome

Synonyms
DEVELOPMENTAL DELAY WITH GASTROINTESTINAL, CARDIOVASCULAR, GENITOURINARY, AND SKELETAL ABNORMALITIES

Summary

DEGCAGS syndrome is an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy. Affected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems. Additional features may include sensorineural hearing loss, hypotonia, anemia or pancytopenia, and immunodeficiency with recurrent infections. Death in childhood may occur (summary by Bertoli-Avella et al., 2021). [from OMIM]

Available tests

4 tests are in the database for this condition.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEGCAGS, hang, ZNF699
    Summary: zinc finger protein 699

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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