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Intellectual developmental disorder with hypotonia and behavioral abnormalities

Summary

Intellectual developmental disorder with hypotonia and behavioral abnormalities (IDDHBA) is a neurodevelopmental disorder characterized by onset of hypotonia and variably impaired global developmental delay in infancy. Affected individuals tend to have learning disability, usually requiring special schooling, as well as behavioral abnormalities, such as autistic features and attention deficit-hyperactivity disorder (ADHD). Additional more variable features may include nonspecific dysmorphic facial features, congenital heart defects, visual or ocular movement anomalies, and poor feeding and/or gastroesophageal reflux (summary by Calpena et al., 2019). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: IDDHBA, K35, CDK8
    Summary: cyclin dependent kinase 8

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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