Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 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 68 is limited due to its rarity and the recent identification of the S1PR2 gene as the causative factor. Conditions like this often affect fewer individuals, making systematic clinical studies challenging. As research continues, more information may become available to better understand the clinical features and management options.
To navigate your condition, consider consulting a geneticist or an audiologist with experience in genetic hearing loss. Genetic counseling may provide insights into family planning and the implications of the S1PR2 mutation. While there are currently no identified patient organizations, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may offer additional support. Participating in genetic studies or registries could also be beneficial as research progresses.
Actionable guidance for navigating care for autosomal recessive nonsyndromic hearing loss 68
To navigate your condition, consider consulting a geneticist or an audiologist with experience in genetic hearing loss. Genetic counseling may provide insights into family planning and the implications of the S1PR2 mutation. While there are currently no identified patient organizations, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may offer additional support. Participating in genetic studies or registries could 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.
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.