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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder with macrocephaly, seizures, and speech delay

Intellectual developmental disorder with macrocephaly, seizures, and speech delay

Summary

IDDMSSD is a neurodevelopmental disorder characterized by impaired intellectual development, poor speech, postnatal macrocephaly, and seizures (Harms et al., 2018). [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: IDDMSSD, PAKalpha, alpha-PAK, p65-PAK, PAK1
    Summary: p21 (RAC1) activated kinase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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