Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C 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 18A is limited due to its rarity and the recent identification of its genetic basis. Conditions like this often affect fewer individuals, which can hinder systematic clinical studies and comprehensive phenotypic characterization. As research continues, more information may become available, providing better insights into the condition.
To navigate your condition, consider consulting an audiologist who specializes in genetic hearing loss. Genetic counseling is also recommended to discuss the implications of USH1C mutations for you and your family. While there are no specific patient organizations identified for this condition, resources such as the National Organization for Rare Disorders (NORD) at rarediseases.org may provide valuable support and information. Additionally, inquire about any available natural history studies or registries that could contribute to understanding this condition better.
Actionable guidance for navigating care for autosomal recessive nonsyndromic hearing loss 18A
To navigate your condition, consider consulting an audiologist who specializes in genetic hearing loss. Genetic counseling is also recommended to discuss the implications of USH1C mutations for you and your family. While there are no specific patient organizations identified for this condition, resources such as the National Organization for Rare Disorders (NORD) at rarediseases.org may provide valuable support and information. Additionally, inquire about any available natural history studies or registries that could contribute to understanding this condition better.
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.