Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 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.
Inheritance patterns describe how genetic conditions are passed from parents to children.
The documentation for autosomal recessive nonsyndromic hearing loss 102 is limited primarily due to its rarity and the recent identification of the EPS8 gene as a causative factor. Conditions like this often lack extensive clinical studies because they affect a small number of individuals worldwide. As research continues, more information about the clinical features and management will likely emerge, providing hope for better understanding and support.
To navigate your condition, consider seeking a geneticist or an audiologist with expertise in hereditary hearing loss. They can provide insights into genetic testing options for you and your family. Additionally, genetic counseling can be beneficial to understand the implications of EPS8 mutations. For more resources, you can visit the Genetic and Rare Diseases Information Center at rarediseases.info.nih.gov, which offers valuable information on genetic conditions. Participating in any available patient registries or natural history studies may also contribute to advancing knowledge about this condition.
Actionable guidance for navigating care for autosomal recessive nonsyndromic hearing loss 102
To navigate your condition, consider seeking a geneticist or an audiologist with expertise in hereditary hearing loss. They can provide insights into genetic testing options for you and your family. Additionally, genetic counseling can be beneficial to understand the implications of EPS8 mutations. For more resources, you can visit the Genetic and Rare Diseases Information Center at rarediseases.info.nih.gov, which offers valuable information on genetic conditions. Participating in any available patient registries or natural history studies may also contribute to advancing knowledge about this 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.
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.