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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder with severe speech and ambulation defects

Intellectual developmental disorder with severe speech and ambulation defects

Summary

Intellectual developmental disorder with severe speech and ambulation defects (IDDSSAD) is an autosomal dominant neurodevelopmental disorder with onset of features in infancy or early childhood. Affected individuals have global developmental delay with impaired intellectual development and absent speech, and most cannot walk independently. Common dysmorphic features include prominent forehead and wide mouth (summary by Bell et al., 2019). [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: ACTL6, BAF53B, DEE76, EIEE76, IDDSSAD, SMARCN2, arpNalpha, ACTL6B
    Summary: actin like 6B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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