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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder with dysmorphic facies and ptosis

Intellectual developmental disorder with dysmorphic facies and ptosis

Summary

Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017). See also chromosome 3p deletion syndrome (613792). [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BR140, IDDDFP, BRPF1
    Summary: bromodomain and PHD finger containing 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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