Features include always present findings: Low muscle tone (hypotonia), Muscle weakness, Premature birth, and Decreased fetal movement; and sometimes findings: Pulmonary artery stenosis, Feeding difficulties, Global developmental delay, and Areflexia and others. 27 total HPO annotations.

CNTN1 encodes contactin 1 (1,018 aa). Contactins mediate cell surface interactions during nervous system development. Highest expression in Brain Cerebellar Hemisphere (133.8 TPM) and Brain Cerebellum (73.1 TPM).

Compton-North congenital myopathy is associated with mutations in the CNTN1 gene on chromosome 12.

The CNTN1 protein participates in NOTCH2 Activation and Transmission of Signal to the Nucleus and Activated NOTCH1 Transmits Signal to the Nucleus pathways.

CNTN1 is classified as a druggable target (Cell Surface and Druggable Genome categories) with score 26.1.

Genetic testing for CNTN1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Compton-North congenital myopathy has been reported in the published literature.

Phenotype severity distribution: 4 always present features.

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

No clinical trials have been registered for Compton-North congenital myopathy.

226 publications have been identified in PubMed for Compton-North congenital myopathy. Kisho has analyzed 163 by research type. Research spans Review / Meta-Analysis (34%), Basic Science / Preclinical (29%), and Epidemiology / Natural History (12%).