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autosomal recessive nonsyndromic hearing loss 63 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 63

MONDO:0012670

Also known as:DFNB63LRTOMT autosomal recessive nonsyndromic deafnessautosomal recessive deafness 63

Overview

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene.

GeneticsAutosomal recessive · LRTOMT (chr 11)

OnsetCONGENITAL

ResearchLimited published research (7 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Abnormal vestibular function, Abnormal fundus morphology, and Congenital sensorineural hearing impairment.

Organ System	Phenotype Count	Example Features
Ears	2	Abnormal vestibular function, Congenital sensorineural hearing impairment

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

LRTOMT encodes leucine rich transmembrane and O-methyltransferase domain containing (291 aa). Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones. Required for auditory function.

Autosomal recessive nonsyndromic hearing loss 63 is caused by mutations in the LRTOMT gene on chromosome 11.

The LRTOMT protein participates in LRTOMT transfers Met to DA, forming 3MT pathway.

LRTOMT is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Diagnosis

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

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for autosomal recessive nonsyndromic hearing loss 63.

7 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 63. Research spans Case Report / Case Series (29%), Basic Science / Preclinical (29%), and Review / Meta-Analysis (14%).

Recent Publications

Pshennikova VG (2026). [PMID: 40957967](https://pubmed.ncbi.nlm.nih.gov/40957967/). *J Hum Genet*. [Case Report / Case Series]
Lourenço J (2025). [PMID: 40539137](https://pubmed.ncbi.nlm.nih.gov/40539137/). *Cureus*. [Case Report / Case Series]
Zaman Q (2025). [PMID: 40404069](https://pubmed.ncbi.nlm.nih.gov/40404069/). *Gene*. [Basic Science / Preclinical]
Riahi Z (2025). [PMID: 41359850](https://pubmed.ncbi.nlm.nih.gov/41359850/). *Proc Natl Acad Sci U S A*. [Epidemiology / Natural History]
Zhang L (2024). [PMID: 39556694](https://pubmed.ncbi.nlm.nih.gov/39556694/). *Adv Sci (Weinh)*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 9:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611451

GARD

Genetic and Rare Diseases Info Center

GARD:22627

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
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→Is there a patient registry I should consider joining?

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autosomal recessive nonsyndromic hearing loss 63

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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