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GTR Home > Conditions/Phenotypes > Pilarowski-Bjornsson syndrome

Pilarowski-Bjornsson syndrome

Synonyms
DEVELOPMENTAL DELAY AND SPEECH APRAXIA WITH OR WITHOUT SEIZURES
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Pilarowski-Bjornsson syndrome (PILBOS) is an autosomal dominant neurodevelopmental disorder characterized by delayed development, impaired intellectual development, often with autistic features, speech apraxia, and mild dysmorphic features. Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2018). [from OMIM]

Available tests

4 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CHD-1, PILBOS, CHD1
    Summary: chromodomain helicase DNA binding protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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