Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene.
Comprehensive, easy-to-understand information about this condition
How we create this content →Inheritance patterns describe how genetic conditions are passed from parents to children.
Age of onset indicates when symptoms typically first appear.
Inheritance patterns describe how genetic conditions are passed from parents to children.
Age of onset indicates when symptoms typically first appear.
The documentation for autosomal recessive nonsyndromic hearing loss 61 is limited primarily because this condition affects a small number of individuals, making systematic clinical studies difficult. Additionally, the genetic basis was only recently identified, and ongoing clinical characterization is necessary to better understand the full spectrum of this condition. This can lead to feelings of isolation for patients and families, but it is important to know that research is ongoing.
To navigate your condition effectively, consider seeking a geneticist or an otolaryngologist (ear, nose, and throat specialist) with experience in hereditary hearing loss. Genetic counseling can provide valuable insights into the implications of the SLC26A5 mutations for you and your family. While there are currently no identified patient organizations for this specific condition, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer support and information. Additionally, inquire about any available genetic testing or natural history studies that may provide further insights into your condition.
Actionable guidance for navigating care for autosomal recessive nonsyndromic hearing loss 61
To navigate your condition effectively, consider seeking a geneticist or an otolaryngologist (ear, nose, and throat specialist) with experience in hereditary hearing loss. Genetic counseling can provide valuable insights into the implications of the SLC26A5 mutations for you and your family. While there are currently no identified patient organizations for this specific condition, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer support and information. Additionally, inquire about any available genetic testing or natural history studies that may provide further insights into your condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
Age of onset indicates when symptoms typically first appear.
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.