Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TPRN 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 79 is limited primarily because this condition affects a small population, leading to fewer systematic clinical studies. Additionally, the genetic basis was only recently identified, and ongoing clinical characterization is necessary to better understand the full spectrum of this condition.
To navigate your care for autosomal recessive nonsyndromic hearing loss 79, consider seeking a specialist in genetic disorders or a geneticist with expertise in hereditary hearing loss. Genetic counseling may be beneficial to discuss the implications of TPRN mutations and family planning options. While there are currently no patient organizations identified for this specific condition, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may provide additional support and information. Engaging in genetic counseling can help you understand your condition better and explore potential avenues for family testing.
Actionable guidance for navigating care for autosomal recessive nonsyndromic hearing loss 79
To navigate your care for autosomal recessive nonsyndromic hearing loss 79, consider seeking a specialist in genetic disorders or a geneticist with expertise in hereditary hearing loss. Genetic counseling may be beneficial to discuss the implications of TPRN mutations and family planning options. While there are currently no patient organizations identified for this specific condition, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may provide additional support and information. Engaging in genetic counseling can help you understand your condition better and explore potential avenues for family testing.
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.