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GTR Home > Conditions/Phenotypes > Developmental delay, hypotonia, and impaired language

Developmental delay, hypotonia, and impaired language

Summary

Developmental delay, hypotonia, and impaired language (DEDHIL) is a neurodevelopmental disorder characterized by variably impaired intellectual development usually with hypotonia, mild motor delay, and language difficulties. Affected individuals may also have nonspecific dysmorphic facial features, gastrointestinal problems, and abnormalities on brain imaging (Stephenson et al., 2022). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AGO, CDC4, DEDHIL, FBW6, FBW7, FBX30, FBXO30, FBXW6, SEL-10, SEL10, hAgo, hCdc4, FBXW7
    Summary: F-box and WD repeat domain containing 7

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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