Features include very common findings: Global developmental delay and Cholestasis; and common findings: Inner ear hearing loss (sensorineural hearing impairment), Seizure, Intrauterine growth retardation, and Abnormal brain white matter (abnormal cerebral white matter morphology) and others. 17 total HPO annotations.

Biomarker and diagnostic research for CADDS has been reported in the published literature.

Phenotype severity distribution: 2 very common features, 6 common features.

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

No clinical trials have been registered for CADDS.

5 publications have been identified in PubMed for CADDS. Research spans Other (20%), Diagnostic / Biomarker (20%), and Review / Meta-Analysis (20%).

Recent Publications

• Lensing K (2026). [PMID: 41218032](https://pubmed.ncbi.nlm.nih.gov/41218032/). *G3 (Bethesda, Md.)*. [Basic Science / Preclinical]

• Tenywa JF (2025). [PMID: 41267901](https://pubmed.ncbi.nlm.nih.gov/41267901/). *NAR genomics and bioinformatics*. [Diagnostic / Biomarker]

• Agarwal U (2025). [PMID: 39810447](https://pubmed.ncbi.nlm.nih.gov/39810447/). *Current drug discovery technologies*. [Review / Meta-Analysis]

• Chen K (2024). [PMID: 38670256](https://pubmed.ncbi.nlm.nih.gov/38670256/). *Drug discovery today*. [Gene Therapy / Novel Therapeutics]

• Fujii S (2024). [PMID: 38881064](https://pubmed.ncbi.nlm.nih.gov/38881064/). *Gan To Kagaku Ryoho*. [Other]