← New search
Phenotype profile

hearing loss

HP:0000365 · SaudiVarKB evidence summary derived from retained literature mentions.

662Phenotype mentions
100Publications
50Associated gene records
50Associated variant records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
GJB2HGNC:428499
MYO7AHGNC:760666
SERAC1HGNC:2106166
HOXA1HGNC:509966
SLC52A3HGNC:1618744
KCNQ1HGNC:629444
SLC29A3HGNC:2309644
COL4A5HGNC:220744
ALMS1HGNC:42833
UBR1HGNC:1680833
COL4A3HGNC:220433
COL4A4HGNC:220633
DCAF17HGNC:2578433
TMC1HGNC:1651333
SLC26A4HGNC:881833
ATP6V1B1HGNC:85333
CDK5RAP2HGNC:1867233
OTOFHGNC:851533
DNAJC3HGNC:943922
GFAPHGNC:423522
AK2HGNC:36222
COL9A1HGNC:221722
GJB6HGNC:428822
NARS2HGNC:2627422
GLIS3HGNC:2851022
MRPL49HGNC:117622
MAN2B1HGNC:682622
USH2AHGNC:1260122
CLRN1HGNC:1260522
SUCLA2HGNC:1144822
CAPSHGNC:148722
GIPC3HGNC:1818322
WFS1HGNC:1276222
LRTOMTHGNC:2503322
INSRHGNC:609122
SALL4HGNC:1592422
CHN1HGNC:194322
KIF21AHGNC:1934922
KCNE1HGNC:624022
LARS2HGNC:1709522
ILDR1HGNC:2874122
TNFHGNC:1189211
TBX15HGNC:1159411
MBHGNC:691511
CACNA1HHGNC:139511
NLRP3HGNC:1640011
CD34HGNC:166211
STAT6HGNC:1136811
PEX6HGNC:885911
PEX1HGNC:885011

Associated variant records

Co-mentioned in the same publications
VariantIdentifier / contextArticlesMentions
c.1177C>Tc.1177C>T11
p.Arg393*p.Arg393*11
c.524G>Cc.524G>C11
p.Val97Glyp.Val97Gly11
V97GV97G11
c.634C>Tc.634C>T11
p.Arg212Cysp.Arg212Cys11
c.1325_1326delc.1325_1326del11
c.3642delTc.3642delT11
c.607C>Ac.607C>A11
p.Pro203Thrp.Pro203Thr11
p.Lys382*p.Lys382*11
c.2402dupGc.2402dupG11
c.243delc.243del11
p.Arg96Glnp.Arg96Gln11
c.106G>Tc.106G>T11
p.Glu36*p.Glu36*11
c.953G>Ac.953G>A11
p.Arg318Glnp.Arg318Gln11
c.436delCc.436delC11
p.Asn199Ilep.Asn199Ile11
M.3243A>GM.3243A>G11
c.1612C>Tc.1612C>T11
p.Arg538Cysp.Arg538Cys11
c.1052C>Ac.1052C>A11
c.1349A>Gc.1349A>G11
p.Asp918Asnp.Asp918Asn11
p.Val1670Aspp.Val1670Asp11
p.Ser253Phep.Ser253Phe11
c.1396_1398delACCc.1396_1398delACC11
p.Arg34Terp.Arg34Ter11
p.Asp572Asnp.Asp572Asn11
c.58C>Tc.58C>T11
c.1A>Gc.1A>G11
c.198_199insAc.198_199insA11
c.1219_1226delc.1219_1226del11
A7445GA7445G11
p.L146Fp.L146F11
p.R213Pp.R213P11
c.4968C>Gc.4968C>G11
p.Tyr1656*p.Tyr1656*11
c.12062G>Ac.12062G>A11
p.Cys4021Tyrp.Cys4021Tyr11
T348MT348M11
c.8817_8830dupc.8817_8830dup11
p.S243Xp.S243X11
c.1037C>Gc.1037C>G11
p.P346Rp.P346R11
c.319A>Tc.319A>T11
p.Lys107*p.Lys107*11

Associated population records

Co-mentioned in the same publications
PopulationIdentifier / contextArticlesMentions
Saudi Arabia6262
Saudi Arabia1717
Population record1515
Population recordCohort 2566
Saudi Arabia · Riyadh55
Population recordCohort 3855
Population recordCohort 344
Population recordCohort 1044
Population recordCohort 3044
Population recordCohort 2333
Population recordCohort 1933
Population recordCohort 1133
Population recordCohort 1333
Population recordCohort 1633
Population recordCohort 433
Population recordCohort 5033
Saudi Arabia · Jeddah33
Population recordCohort 10033
Population recordCohort 3133
Riyadh33
Saudi ArabiaCohort 10033
Saudi ArabiaCohort 21033
Population recordCohort 1722
Population recordCohort 2022
Population recordCohort 5922
Saudi ArabiaCohort 222
Population recordCohort 10322
Population recordCohort 2622
Population recordCohort 9522
Population recordCohort 5622
Population recordCohort 2822
Population recordCohort 1522
Saudi ArabiaCohort 2322
Saudi Arabia · Asir22
Population recordCohort 4222
Population recordCohort 5222
Population recordCohort 5122
Population recordCohort 6322
Population recordCohort 4522
Population recordCohort 6822
Population recordCohort 2922
Population recordCohort 8822
Saudi Arabia · RiyadhCohort 4022
Population recordCohort 3422
Saudi ArabiaCohort 1,05422
Population recordCohort 79322
Saudi ArabiaCohort 6,42122
Population recordCohort 2311
Population recordCohort 011
Population recordCohort 1011

Supporting publications

100 records
  1. 2026A Novel Homozygous Loss-of-Function Variant in GPR156 Delineates Non-syndromic Hearing Loss.Biochemical genetics1 mentions
  2. 2026Impact of Early Intervention on Children with Congenital Conductive Hearing Loss: Role of Active Transcutaneous Bone Conduction Implants.Audiology & neuro-otology1 mentions
  3. 2026Assessment of auditory pathway microstructure in vestibular schwannoma patients: a quantitative diffusion tensor tractography study.Journal of neurosurgery1 mentions
  4. 2026Consistent hearing aid use in babies (CHerUB): a systematic review and mixed methods synthesis of barriers and facilitators using the theoretical domains framework.Health psychology review1 mentions
  5. 2026Comparison of the efficacy and safety of intratympanic application of different corticosteroids: a systematic review and meta-analysis.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery1 mentions
  6. 2026Effect of early activation and perimodiolar electrodes on cochlear implant impedance.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery1 mentions
  7. 2026Characterization of monogenic diabetes among Sudanese children: a multi-center experience from a population with high consanguinity.Journal of pediatric endocrinology & metabolism : JPEM1 mentions
  8. 2026Effectiveness of the ForwardFocus Feature in Cochlear Implant Patients in Noisy Environments.Audiology & neuro-otology1 mentions
  9. 2026An EABR paradigm for assessing inner ear malformations in cochlear implantation.Acta oto-laryngologica1 mentions
  10. 2026Quality of Life Assessment Among Patients With Otitis Media With Effusion in Makkah City, Saudi Arabia.The Journal of craniofacial surgery1 mentions
  11. 2026Safety and Outcome of Piezoelectric Active Transcutaneous Bone Conduction Implants for Children Younger Than 5 Years: A Prospective Cohort Study.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology1 mentions
  12. 2026Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant.The American journal of case reports1 mentions
  13. 2026Assessing the quality of life among children with cochlear implants in Saudi Arabia.PloS one1 mentions
  14. 2026Restoring Sound Localization in Single-Sided Deafness Through Cochlear Implantation: A Meta-Analysis.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology1 mentions
  15. 2026Vibrant Soundbridge and Porous Polyethylene Auricular Reconstruction in a Single‑Stage Procedure.Science progress1 mentions
  16. 2026Spontaneous Complete Recovery of Bilateral Severe Sensorineural Hearing Loss After Two Years: A Rare Case Report.La Clinica terapeutica1 mentions
  17. 2026Temporal Bone Fractures on High-Resolution CT: Bridging Radiologic Detail with Otologic Anatomy and Surgical Implications.Diagnostics (Basel, Switzerland)1 mentions
  18. 2026Occupational Noise-Induced Hearing Loss in Saudi Arabia: A Systematic Review.Cureus1 mentions
  19. 2026Efficacy of a structured auditory training module in older individuals with hearing loss: a randomized controlled trial.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery1 mentions
  20. 2026Reperfusion of Retinal Arteriolar Occlusion After Initiation of Immunosuppressive Therapy in Pediatric Susac Syndrome.Ocular immunology and inflammation1 mentions
  21. 2026Nerve dissection technique to optimize functional outcome: resection of cystic vestibular schwannoma: how I do it.Acta neurochirurgica1 mentions
  22. 2026Personalized Hearing Loss Care Using SNOMED CT-Aligned Ontology and Random Forest Machine Learning: A Hybrid Decision-Support Framework.Audiology research1 mentions
  23. 2026Knowledge and Practices of Hearing Screening and Hearing Loss Management among Ear, Nose, and Throat Physicians in Saudi Arabia.International archives of otorhinolaryngology1 mentions
  24. 2026Efficacy of Pseudoephedrine and Oxymetazoline in Preventing Otic Barotrauma: A Systematic Review and Meta-Analysis.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology1 mentions
  25. 2026Effects of hearing loss, sex, age, noise exposure and listening skills on the detection of amplitude modulation of a 4-kHz carrier.The Journal of the Acoustical Society of America1 mentions
  26. 2026Listening and spoken language development in children with cochlear implants in the Gulf Cooperation Council countries: A 24-month follow-up study and influencing factors.Cochlear implants international1 mentions
  27. 2026Intraoperative ABR in Vibrant Soundbridge Surgery: Influence of Bone-Conduction Thresholds.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery1 mentions
  28. 2026Trans-impedance matrix heatmap patterns in cochlear implant patients with different cochlear pathologies: meningitis, otosclerosis, and temporal bone fractures.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery1 mentions
  29. 2026Sporadic Mixed Heterotopic Tissue Choristoma of the Middle Ear in an Adolescent Female: A Rare Case Report.Ear, nose, & throat journal1 mentions
  30. 2026Receptive Vocabulary Outcomes in Children with Cochlear Implants with and Without Additional Difficulties: A Multicenter Cross-Sectional Analysis.Audiology research1 mentions
  31. 2026SLC52A3-related Brown-Vialetto-Van Laere syndrome: a large cohort from the Arabian Peninsula.European journal of human genetics : EJHG1 mentions
  32. 2026Exploring parental perspectives on the barriers and benefits of pediatric cochlear implantation: a cross-sectional study in Jeddah, Saudi Arabia.Frontiers in pediatrics1 mentions
  33. 2026Heimler Syndrome Caused by Novel PEX6 Variants: Clinical and Genetic Characterization in a Saudi Cohort.Genes1 mentions
  34. 2026Rare genetic causes of primary microcephaly in two Saudi families identified via whole-exome sequencing: Genomic and phenotypic delineation of pathogenic CDK5RAP2 and CIT variants.Molecular genetics and metabolism reports1 mentions
  35. 2026Noise exposure burden and hearing protection compliance among Saudi military personnel: A cross-sectional study.The South African journal of communication disorders = Die Suid-Afrikaanse tydskrif vir Kommunikasieafwykings1 mentions
  36. 2026Counseling in audiology practice in Saudi Arabia: perceptions, confidence, training experiences, and barriers - a cross-sectional survey.Frontiers in medicine1 mentions
  37. 2026Systemic Corticosteroids versus Intratympanic Corticosteroids as Primary Treatments for Idiopathic Sudden Sensorineural Hearing Loss: A Systematic Review and Meta-Analysis.Ear, nose, & throat journal1 mentions
  38. 2026Reticular dysgenesis caused by AK2 deficiency: clinical spectrum and hematopoietic stem cell transplantation outcomes in 10 patients from a single-center.Frontiers in immunology1 mentions
  39. 2026Acquired Eustachian tube atresia following turbinoplasty: multimodal surgical reconstruction, clinical outcomes, case series, and literature review.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery1 mentions
  40. 2026Clinical and genetic profile of achondroplasia: a descriptive study from a tertiary care center in Saudi Arabia.BMC pediatrics1 mentions
  41. 2026Sudden sensorineural olfactory loss: a structured narrative review and proposal for a standardised terminological framework.Frontiers in surgery1 mentions
  42. 2026Effect of Type of Speech Equalization and Averaging Method on the Long-Term Average Speech Spectra of Five Indian Languages and British English.Journal of speech, language, and hearing research : JSLHR1 mentions
  43. 2026Early-Onset Retinal Dystrophy in Alpha-Mannosidosis: A Case Report.Case reports in ophthalmology1 mentions
  44. 2026Goldenhar syndrome with combined external, middle, and inner ear anomalies with aplasia of internal auditory canal: a case report.AME case reports1 mentions
  45. 2026Critical appraisal of "Diagnostic value of the inner ear computed tomography measurements in detecting congenital sensorineural hearing loss: a comparative study".European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery1 mentions
  46. 2026Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature.Clinical genetics1 mentions
  47. 2026DNAJC3-Related Syndromic Monogenic Diabetes Without Clinically Evident Neurological Manifestations in an Adult: Expanding the Phenotypic Spectrum.Genes1 mentions
  48. 2026Primary Middle Ear Meningioma: Case Report and Literature Review.International journal of surgical pathology1 mentions
  49. 2025Transcutaneous Bone Conduction Implants in Patients With Single-Sided Deafness: Objective and Subjective Evaluation.Ear, nose, & throat journal1 mentions
  50. 2025Novel technique utilizing polymethylmethacrylate cement for the treatment of pulsatile tinnitus caused by different sigmoid sinus pathologies.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery1 mentions
  51. 2025Systems biology and molecular modeling assisted exploration of the underlying mechanism of Safflower (Carthamus tinctorius L.) in the treatment of hearing loss.Journal of biomolecular structure & dynamics1 mentions
  52. 2025Hearing implants in pediatrics with cochlear nerve deficiency: an updated systematic review.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery1 mentions
  53. 2025Online Arabic and English Digits-in-Noise Tests: Effects of Test Language and At-Home Testing.Journal of speech, language, and hearing research : JSLHR1 mentions
  54. 2025The impact of cochlear implants on speech and language outcomes in pre-lingually deafened Arabic-speaking children: a systematic review.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery1 mentions
  55. 2025Prevalence of depression, anxiety, and stigma among high school students with deafness and its association with their quality of school life: A national study from Saudi Arabia.Research in developmental disabilities1 mentions
  56. 2025Consanguinity and hearing loss prevalence among Saudi Arabia population.International journal of pediatric otorhinolaryngology1 mentions
  57. 2025A unique presentation of infratemporal fossa giant cell granuloma: A case report and literature review.International journal of surgery case reports1 mentions
  58. 2025Evolutionary sparse learning with paired species contrast reveals the shared genetic basis of convergent traits.bioRxiv : the preprint server for biology1 mentions
  59. 2025Understanding Parental Perspectives on Childhood Hearing Impairment and Timely Interventions.Cureus1 mentions
  60. 2025A 250-kb Microdeletion Identified in Chromosome 16 Is Associated With Non-Syndromic Sensorineural Hearing Loss in a South Indian Consanguineous Family.Journal of audiology & otology1 mentions
  61. 2025Predictors of hearing loss disability: a multinational study using the ICF core set.International journal of audiology1 mentions
  62. 2025Cochlear implantation at King Abdallah Medical City, Makkah, Saudi Arabia: Single institution experience, a 5-years retrospective analysis.Saudi medical journal1 mentions
  63. 2025Bilateral Simultaneous Cochlear Implants: How Early Activation Influences Wearing Hours.Journal of clinical medicine1 mentions
  64. 2025IoT-driven smart assistive communication system for the hearing impaired with hybrid deep learning models for sign language recognition.Scientific reports1 mentions
  65. 2025Galactosialidosis: A Report of Three Cases Diagnosed With a Founder Genetic Mutation in the Bahraini Population.Cureus1 mentions
  66. 2025Predictors of hearing screening among residents of Saudi Arabia at primary healthcare settings in Riyadh: useful insights from a cross-sectional survey.BMC public health1 mentions
  67. 2025Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.American journal of human genetics1 mentions
  68. 2025Awareness of and the relationship between noise-induced hearing loss and the use of personal listening devices in Jazan region, Saudi Arabia.Frontiers in public health1 mentions
  69. 2025Susac Syndrome with Classical Triad: A Case Report and Literature Review.Annals of African medicine1 mentions
  70. 2025Long-term clinical and audiometric outcomes after the implantation of piezoelectric bone conduction devices in children: a prospective cohort study.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery1 mentions
  71. 2025Feasibility of an Objective Approach Using Acoustic Change Complex for Evaluating Spectral Resolution in Individuals with Normal Hearing and Hearing Loss.Journal of integrative neuroscience1 mentions
  72. 2025Unheard Struggles: Exploring Health-Related Quality of Life Determinants and Coping Mechanisms Among Children with Hearing Loss from Parents and Caregivers Perspective.Risk management and healthcare policy1 mentions
  73. 2025The Prevalence, Knowledge, Attitude, and Practice of Occupational Hearing Loss Among Industrial Workers in Saudi Arabia.Journal of speech, language, and hearing research : JSLHR1 mentions
  74. 2025Hearing loss among otolaryngologist and healthcare workers: Case control study.American journal of otolaryngology1 mentions
  75. 2025Impact of Ventilation Tubes on Pediatric Otitis Media Outcomes: A Retrospective Study From Saudi Arabia.Cureus1 mentions
  76. 2025Comparing CO2 Laser and Microdrill in Primary Stapedotomy: A Systematic Review and Meta-Analysis of Post-Operative Hearing Outcomes and Complications.ORL; journal for oto-rhino-laryngology and its related specialties1 mentions
  77. 2025Whole exome sequencing: Unlocking the molecular diagnostic odyssey in Pakhtun ethnic group of Pakistani population.Gene1 mentions
  78. 2025Enhancing auditory physiology: simulating unilateral conduction defects to improve understanding of Rinne's and Weber's tests.Advances in physiology education1 mentions
  79. 2025Impact of cochlear implant indications on outcome, assessed and reported using the international classification of functioning, disability and health model.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery1 mentions
  80. 2025The relationship between self-reported hearing impairment and dental care utilisation.British dental journal1 mentions
  81. 2025Co-occurrence of Otologic Disorders and Benign Paroxysmal Positional Vertigo: A Systematic Review and Meta-Analysis.Clinical and experimental otorhinolaryngology1 mentions
  82. 2025Auditory Acclimatization in New Adult Hearing Aid Users: A Registered Systematic Review of Magnitude, Key Variables, and Clinical Relevance.Journal of speech, language, and hearing research : JSLHR1 mentions
  83. 2025Outcomes of Cochlear Implantation in Postmeningitis Hearing Loss: A Systematic Review and Meta-Analysis.Ear, nose, & throat journal1 mentions
  84. 2025Cochlear implantation in children with Bartter syndrome: A case report.Science progress1 mentions
  85. 2025Comparative Outcomes of Cochlear Implantation in Children with Auditory Neuropathy Spectrum Disorder and Sensorineural Hearing Loss: A Systematic Review and Meta-Analysis.Audiology & neuro-otology1 mentions
  86. 2025Prevalence and determinants of hearing loss in systemic lupus erythematosus: A cross-sectional study in a tertiary care center in Saudi Arabia.Saudi medical journal1 mentions
  87. 2025Speech Recognition in Noise: Analyzing Phoneme, Syllable, and Word-Based Scoring Methods and Their Interaction with Hearing Loss.Diagnostics (Basel, Switzerland)1 mentions
  88. 2025Cross-cultural adaptation, reliability, and validity of the Arabic version of the Speech, Spatial, and Qualities of Hearing Scale.Clinical rehabilitation1 mentions
  89. 2025Noise-induced hearing loss among military personnel in Saudi Arabia: a preliminary study.Journal of medicine and life1 mentions
  90. 2025Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness.Orphanet journal of rare diseases1 mentions
  91. 2025COVID-19-Related Challenges Among Patients With Hearing Loss Prescribed Hearing Aids, and Their Awareness of Telehealthcare.Cureus1 mentions
  92. 2025Sociodemographic, health, and environmental determinants of speech delay in children: A case-control study.Medicine1 mentions
  93. 2025Tinnitus and Cognition in the Elderly: Unraveling the Impact of Symptom Burden on Cognitive Decline.Brain sciences1 mentions
  94. 2025Conductive hearing loss from ossicular compression by aberrant vessel.Journal of surgical case reports1 mentions
  95. 2025Delayed-onset hearing loss in first-grade students who previously passed the newborn hearing screening.Frontiers in pediatrics1 mentions
  96. 2025Quality of life of mothers of children with Down syndrome: a study comparing those with and without hearing loss.Frontiers in psychiatry1 mentions
  97. 2025The International Outcome Inventory for Hearing Aids (IOI-HA) and Its Correlation With World Health Organization Quality of Life - Brief Version (WHOQOL-BREF) in Assessing the Quality of Life of Patients With Hearing Loss Using Hearing Aids.Cureus1 mentions
  98. 2025Case Report of Salmonella and HHV-6 Meningitis in an Infant.Pediatric reports1 mentions
  99. 2025Deep fusion based transfer learning with bald eagle search algorithm for sign language recognition to assist individuals with hearing and speech impairments.Scientific reports1 mentions
  100. 2025Blood Inflammatory Markers as Predictors of Effusion Characteristics and Postoperative Hearing Outcomes in Children with Otitis Media with Effusion: A Retrospective Study.Medicina (Kaunas, Lithuania)1 mentions