Features include always present findings: Global developmental delay and Low muscle tone (hypotonia); and very common findings: Speech apraxia. 20 total HPO annotations.

CHD1 encodes chromodomain helicase DNA binding protein 1 (1,710 aa). ATP-dependent chromatin-remodeling factor which functions as substrate recognition component of the transcription regulatory histone acetylation (HAT) complex SAGA. Highest expression in Cells EBV-transformed lymphocytes (29.4 TPM) and Testis (26.9 TPM).

Pilarowski-Bjornsson syndrome is associated with mutations in the CHD1 gene on chromosome 5.

The CHD1 protein participates in CHD1 and CHD2 subfamily, CHD chromatin remodelers, and ATP-dependent chromatin remodelers pathways.

CHD1 is classified as a druggable target with score 2.9.

Genetic testing for CHD1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Pilarowski-Bjornsson syndrome has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 1 very common feature, 14 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for Pilarowski-Bjornsson syndrome.

102 publications have been identified in PubMed for Pilarowski-Bjornsson syndrome. Kisho has analyzed 69 by research type. Research spans Review / Meta-Analysis (41%), Basic Science / Preclinical (23%), and Clinical Trial Publication (17%).