An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness.
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 surrounding autosomal recessive nonsyndromic hearing loss 49 is limited primarily due to its rarity. Conditions like this affect a small number of individuals, making it challenging to conduct large-scale clinical studies. Additionally, the genetic basis was only recently identified, and ongoing clinical characterization is necessary to fully understand the condition's impact and variability.
To navigate your condition effectively, consider consulting with an audiologist who specializes in genetic hearing loss. Genetic counseling is also recommended, as it can provide insights into the implications of the MARVELD2 gene mutation for you and your family. Although there are no specific patient organizations identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information and support. Additionally, inquire about any opportunities for participation in natural history studies related to hearing loss.
Actionable guidance for navigating care for autosomal recessive nonsyndromic hearing loss 49
To navigate your condition effectively, consider consulting with an audiologist who specializes in genetic hearing loss. Genetic counseling is also recommended, as it can provide insights into the implications of the MARVELD2 gene mutation for you and your family. Although there are no specific patient organizations identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information and support. Additionally, inquire about any opportunities for participation in natural history studies related to hearing loss.
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.