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GTR Home > Conditions/Phenotypes > Intellectual disability, autosomal dominant 24

Intellectual disability, autosomal dominant 24

Synonyms
VULTO-VAN SILFHOUT-DE VRIES SYNDROME

Summary

Vulto-van Silfout-de Vries syndrome (VSVS) is an intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities, including autistic features and poor eye contact. Most patients have additional nonspecific features, including hypotonia and gait abnormalities, seizures, which may be refractory, high pain threshold, and sleep disturbances (summary by Nabais Sa et al., 2019). [from OMIM]

Available tests

15 tests are in the database for this condition.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MRD24, NEDHELS, NUDR, SPN, VSVS, ZMYND5, DEAF1
    Summary: DEAF1 transcription factor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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