Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene.
Comprehensive, easy-to-understand information about this condition
How we create this content →The limited documentation surrounding autosomal recessive nonsyndromic hearing loss 36 can be frustrating. This condition affects a relatively small number of individuals, which has resulted in fewer systematic clinical studies. Additionally, the genetic basis was only recently identified, and ongoing clinical characterization is still in progress. This means that many aspects of the condition remain under-researched.
To find appropriate care, consider consulting with an audiologist or an otolaryngologist (ENT) who specializes in hereditary hearing loss. Genetic counseling is also recommended, as it can provide valuable insights into the implications of the ESPN gene mutation for you and your family. While there are currently no identified patient organizations, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer additional information and support. Genetic counseling services can be found at findageneticcounselor.com.
Actionable guidance for navigating care for autosomal recessive nonsyndromic hearing loss 36
To find appropriate care, consider consulting with an audiologist or an otolaryngologist (ENT) who specializes in hereditary hearing loss. Genetic counseling is also recommended, as it can provide valuable insights into the implications of the ESPN gene mutation for you and your family. While there are currently no identified patient organizations, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer additional information and support. Genetic counseling services can be found at findageneticcounselor.com.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The limited documentation surrounding autosomal recessive nonsyndromic hearing loss 36 can be frustrating. This condition affects a relatively small number of individuals, which has resulted in fewer systematic clinical studies. Additionally, the genetic basis was only recently identified, and ongoing clinical characterization is still in progress. This means that many aspects of the condition remain under-researched.
To find appropriate care, consider consulting with an audiologist or an otolaryngologist (ENT) who specializes in hereditary hearing loss. Genetic counseling is also recommended, as it can provide valuable insights into the implications of the ESPN gene mutation for you and your family. While there are currently no identified patient organizations, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer additional information and support. Genetic counseling services can be found at findageneticcounselor.com.
Actionable guidance for navigating care for autosomal recessive nonsyndromic hearing loss 36
To find appropriate care, consider consulting with an audiologist or an otolaryngologist (ENT) who specializes in hereditary hearing loss. Genetic counseling is also recommended, as it can provide valuable insights into the implications of the ESPN gene mutation for you and your family. While there are currently no identified patient organizations, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer additional information and support. Genetic counseling services can be found at findageneticcounselor.com.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The limited documentation surrounding autosomal recessive nonsyndromic hearing loss 36 can be frustrating. This condition affects a relatively small number of individuals, which has resulted in fewer systematic clinical studies. Additionally, the genetic basis was only recently identified, and ongoing clinical characterization is still in progress. This means that many aspects of the condition remain under-researched.
To find appropriate care, consider consulting with an audiologist or an otolaryngologist (ENT) who specializes in hereditary hearing loss. Genetic counseling is also recommended, as it can provide valuable insights into the implications of the ESPN gene mutation for you and your family. While there are currently no identified patient organizations, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer additional information and support. Genetic counseling services can be found at findageneticcounselor.com.
Actionable guidance for navigating care for autosomal recessive nonsyndromic hearing loss 36
To find appropriate care, consider consulting with an audiologist or an otolaryngologist (ENT) who specializes in hereditary hearing loss. Genetic counseling is also recommended, as it can provide valuable insights into the implications of the ESPN gene mutation for you and your family. While there are currently no identified patient organizations, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer additional information and support. Genetic counseling services can be found at findageneticcounselor.com.
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.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 7, 2026
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.