Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 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.
Documentation is limited for autosomal recessive nonsyndromic hearing loss 48 primarily because it affects a relatively small population, leading to fewer systematic clinical studies. The genetic basis was only recently identified, and ongoing research is needed to better characterize the clinical features associated with this condition. This can be frustrating, but it also highlights the importance of continued research and patient advocacy.
To navigate your journey with autosomal recessive nonsyndromic hearing loss 48, consider consulting a geneticist or an audiologist with experience in hereditary hearing loss. Genetic counseling can provide insights into family planning and the implications of genetic testing. Although there are currently no identified patient organizations, you can refer to resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for further information and support. Participating in natural history studies may also be beneficial as research progresses.
Actionable guidance for navigating care for autosomal recessive nonsyndromic hearing loss 48
To navigate your journey with autosomal recessive nonsyndromic hearing loss 48, consider consulting a geneticist or an audiologist with experience in hereditary hearing loss. Genetic counseling can provide insights into family planning and the implications of genetic testing. Although there are currently no identified patient organizations, you can refer to resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for further information and support. Participating in natural history studies may also be beneficial as research progresses.
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.