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GTR Home > Conditions/Phenotypes > Developmental delay with dysmorphic facies and dental anomalies

Developmental delay with dysmorphic facies and dental anomalies

Summary

Developmental delay with dysmorphic facies and dental anomalies (DEFDA) is characterized by generally mild global developmental delay with variably impaired intellectual development, walking by 2 to 3 years, and slow language acquisition. The severity of the disorder ranges from moderate cognitive deficits to mild learning difficulties or behavioral abnormalities. Most patients have dysmorphic facial features, often with abnormal dentition and nonspecific visual defects, such as myopia, astigmatism, and strabismus. Although rare, involvement of other systems, such as skeletal, cardiac, and gastrointestinal, may be present (summary by den Hoed et al., 2021). [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: DEFDA, DHDBV, KTZSL, SATB1
    Summary: SATB homeobox 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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