An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss.
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.
Documentation for autosomal recessive nonsyndromic hearing loss 28 is limited primarily due to the rarity of the condition and the recent identification of its genetic basis. As fewer individuals are affected, systematic clinical studies and comprehensive phenotype characterizations have been challenging to conduct. This means that while the genetic cause is known, the clinical features and management strategies are still being explored.
To navigate your care for autosomal recessive nonsyndromic hearing loss 28, consider seeking a specialist in genetic disorders or a clinical geneticist who can provide insights into genetic counseling and testing options. While there are currently no designated patient organizations, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, genetic counseling can help in understanding the implications of TRIOBP mutations for you and your family. If you have concerns about hearing loss, an audiologist with experience in hereditary hearing disorders may also be beneficial.
Actionable guidance for navigating care for autosomal recessive nonsyndromic hearing loss 28
To navigate your care for autosomal recessive nonsyndromic hearing loss 28, consider seeking a specialist in genetic disorders or a clinical geneticist who can provide insights into genetic counseling and testing options. While there are currently no designated patient organizations, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, genetic counseling can help in understanding the implications of TRIOBP mutations for you and your family. If you have concerns about hearing loss, an audiologist with experience in hereditary hearing disorders may also be beneficial.
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.