Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the DCDC2 gene.
Features include always present findings: Inner ear hearing loss (sensorineural hearing impairment).
Organ System | Phenotype Count | Example Features |
|---|---|---|
Ears | 1 | Inner ear hearing loss (sensorineural hearing impairment) |
DCDC2 encodes doublecortin domain containing 2 (476 aa). Protein that plays a role in the inhibition of canonical Wnt signaling pathway. May be involved in neuronal migration during development of the cerebral neocortex. Highest expression in Kidney Medulla (32.6 TPM) and Kidney Cortex (19.0 TPM).
Autosomal recessive nonsyndromic hearing loss 66 is associated with mutations in the DCDC2 gene on chromosome 6.
The DCDC2 protein participates in Primary multipotent pancreatic progenitor cell produces trunk bipotent pancreatic progenitor cell and Trunk bipotent pancreatic progenitor cell produces pancreatic ductal cell pathways.
DCDC2 is classified as a druggable target with score 0.0.
Genetic testing for DCDC2 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature.
No clinical trials have been registered for autosomal recessive nonsyndromic hearing loss 66.
5 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 66. Research spans Review / Meta-Analysis (25%), Case Report / Case Series (25%), and Clinical Trial Publication (25%).
Ding Y (2025). [PMID: 40195191](https://pubmed.ncbi.nlm.nih.gov/40195191/). *Eur Arch Otorhinolaryngol*. [Clinical Trial Publication]
Salame M (2025). [PMID: 39230647](https://pubmed.ncbi.nlm.nih.gov/39230647/). *J Appl Genet*. [Case Report / Case Series]
Webb BD (2025). [PMID: 40662098](https://pubmed.ncbi.nlm.nih.gov/40662098/). *Genet Med Open*. [Review / Meta-Analysis]
D'Arco F (2024). [PMID: 38833161](https://pubmed.ncbi.nlm.nih.gov/38833161/). *Neuroradiology*. [Epidemiology / Natural History]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:03 PM UTC
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about autosomal recessive nonsyndromic hearing loss 66