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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder with autism and macrocephaly

Intellectual developmental disorder with autism and macrocephaly

Synonyms
Autism, susceptibility to, 18

Summary

CHD8-related neurodevelopmental disorder with overgrowth (CHD8-NDD) is characterized by generalized overgrowth, developmental delay / intellectual disability (DD/ID), autism spectrum disorder (ASD), neuropsychiatric issues, neurologic problems, sleep disturbance, and gastrointestinal issues The most common findings are the development of macrocephaly (most often during infancy) and tall stature (most typically during puberty), which is often accompanied by ASD and/or DD/ID. Most, if not all, affected individuals have some degree of DD, most commonly speech and motor delays. When present, ID is most often in the mild-to-moderate range. Sleep disturbance is characterized by difficulty with both initiation (delayed sleep onset) and maintenance (frequent night awakenings) of sleep. The most common gastrointestinal issue is constipation with or without periods of diarrhea. Less common features are hypotonia (about 30% of affected individuals), seizures (10%-15%), dystonia (rare), and Chiari I malformation (rare). [from GeneReviews]

Available tests

20 tests are in the database for this condition.

Clinical tests (20 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AUTS18, HELSNF1, IDDAM, CHD8
    Summary: chromodomain helicase DNA binding protein 8

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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