ORPHA:216445
Prelingual non-syndromic genetic deafness
Also known as: Prelingual non-syndromic genetic hearing loss · Isolated prelingual genetic deafness · Isolated prelingual genetic hearing loss
Is anyone studying this?
404
404 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
404 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
300 in the last 10 years · low confidence
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
low confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Who's working on it?
1,438
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Zhang Y8 papers · 2024
Department of Pediatrics, Zhujiang Hospital, Southern Medical University, Guangzhou, China.
Papers in Europe PMC - 02Chipman P3 papers · 2024
Department of Biochemistry and Molecular Biology, Center for Structural Biology, McKnight Brain Institute, College of Medicine, University of Florida, Gainesville, FL 32610, USA.
Papers in Europe PMC - 03Li C3 papers · 2026
Department of Joint Bone Disease Surgery, Changhai Hospital, Naval Medical University, Shanghai 200433, China.
Papers in Europe PMC - 04Li S3 papers · 2023
Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Disease, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.
Papers in Europe PMC - 05Liu Y3 papers · 2024
Department of Obstetrics & Gynecology, Center of Reproductive Medicine, Fuzhou General Hospital, Clinical College of Fujian Medical University/Dongfang Hospital, Xiamen University Medical College, Fuzhou, 350025, Fujian, China.
Papers in Europe PMC - 06McKenna R3 papers · 2024
Department of Biochemistry and Molecular Biology, Center for Structural Biology, McKnight Brain Institute, College of Medicine, University of Florida, Gainesville, FL 32610, USA.
Papers in Europe PMC - 07Mietzsch M3 papers · 2024
Department of Biochemistry and Molecular Biology, Center for Structural Biology, McKnight Brain Institute, College of Medicine, University of Florida, Gainesville, FL 32610, USA.
Papers in Europe PMC - 08Vidailhet M3 papers · 2025
Department of Neurology, Salpetriere Hospital, Sorbonne University, University Pierre and Marie Curie, ICM Research Centre, UMR S 1127, INSERM U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle, Paris, France.
Papers in Europe PMC - 09Wang C3 papers · 2022
Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Disease, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.
Papers in Europe PMC - 10Zech M3 papers · 2025
Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it above — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored below but are not added to the query string.
"Prelingual non-syndromic genetic deafness" OR "Prelingual non-syndromic genetic hearing loss" OR "Isolated prelingual genetic deafness" OR "Isolated prelingual genetic hearing loss"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Prelingual non-syndromic genetic deafness" OR "Prelingual non-syndromic genetic hearing loss" OR "Isolated prelingual genetic deafness" OR "Isolated prelingual genetic hearing loss"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
0Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding; confidence capped at low