Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 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.
Documentation for autosomal recessive nonsyndromic hearing loss 91 is limited primarily because this condition affects a small number of individuals, making systematic clinical studies challenging. Additionally, the genetic basis was only recently identified, and ongoing research is needed to fully characterize the clinical features associated with SERPINB6 mutations.
To navigate your journey with autosomal recessive nonsyndromic hearing loss 91, consider seeking a geneticist or an audiologist with experience in hereditary hearing loss. Genetic counseling can provide valuable insights into family planning and testing options for relatives. While there are currently no identified patient organizations, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer support and information. Additionally, inquire about any opportunities for participation in future research studies as they develop.
Actionable guidance for navigating care for autosomal recessive nonsyndromic hearing loss 91
To navigate your journey with autosomal recessive nonsyndromic hearing loss 91, consider seeking a geneticist or an audiologist with experience in hereditary hearing loss. Genetic counseling can provide valuable insights into family planning and testing options for relatives. While there are currently no identified patient organizations, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer support and information. Additionally, inquire about any opportunities for participation in future research studies as they develop.
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.