An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2.
Comprehensive, easy-to-understand information about this condition
How we create this content →Documentation for autosomal recessive nonsyndromic hearing loss 55 is limited due to its rarity and the recent identification of its genetic basis. With fewer individuals affected, systematic clinical studies have been challenging to conduct, leading to gaps in knowledge about the condition. Ongoing research may help to clarify the clinical features and potential management strategies in the future.
The primary clinical feature of autosomal recessive nonsyndromic hearing loss 55 is hearing impairment, which is present in 100% of affected individuals. This hearing loss typically manifests in infancy and can range from mild to profound, impacting the ability to hear sounds and communicate effectively. There are no additional phenotypic features associated with this condition, as it is classified as nonsyndromic.
To navigate your journey with autosomal recessive nonsyndromic hearing loss 55, consider seeking a specialist in genetic disorders or an audiologist with experience in hereditary hearing loss. Genetic counseling may provide insights into family planning and the implications of the autosomal recessive inheritance pattern. While there are currently no identified patient organizations for this condition, resources like the National Organization for Rare Disorders (NORD) at rarediseases.org may offer support and information. Additionally, exploring opportunities to participate in any future research studies could be beneficial.
Actionable guidance for navigating care for autosomal recessive nonsyndromic hearing loss 55
To navigate your journey with autosomal recessive nonsyndromic hearing loss 55, consider seeking a specialist in genetic disorders or an audiologist with experience in hereditary hearing loss. Genetic counseling may provide insights into family planning and the implications of the autosomal recessive inheritance pattern. While there are currently no identified patient organizations for this condition, resources like the National Organization for Rare Disorders (NORD) at rarediseases.org may offer support and information. Additionally, exploring opportunities to participate in any future research studies could be beneficial.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Documentation for autosomal recessive nonsyndromic hearing loss 55 is limited due to its rarity and the recent identification of its genetic basis. With fewer individuals affected, systematic clinical studies have been challenging to conduct, leading to gaps in knowledge about the condition. Ongoing research may help to clarify the clinical features and potential management strategies in the future.
The primary clinical feature of autosomal recessive nonsyndromic hearing loss 55 is hearing impairment, which is present in 100% of affected individuals. This hearing loss typically manifests in infancy and can range from mild to profound, impacting the ability to hear sounds and communicate effectively. There are no additional phenotypic features associated with this condition, as it is classified as nonsyndromic.
To navigate your journey with autosomal recessive nonsyndromic hearing loss 55, consider seeking a specialist in genetic disorders or an audiologist with experience in hereditary hearing loss. Genetic counseling may provide insights into family planning and the implications of the autosomal recessive inheritance pattern. While there are currently no identified patient organizations for this condition, resources like the National Organization for Rare Disorders (NORD) at rarediseases.org may offer support and information. Additionally, exploring opportunities to participate in any future research studies could be beneficial.
Actionable guidance for navigating care for autosomal recessive nonsyndromic hearing loss 55
To navigate your journey with autosomal recessive nonsyndromic hearing loss 55, consider seeking a specialist in genetic disorders or an audiologist with experience in hereditary hearing loss. Genetic counseling may provide insights into family planning and the implications of the autosomal recessive inheritance pattern. While there are currently no identified patient organizations for this condition, resources like the National Organization for Rare Disorders (NORD) at rarediseases.org may offer support and information. Additionally, exploring opportunities to participate in any future research studies could be beneficial.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Documentation for autosomal recessive nonsyndromic hearing loss 55 is limited due to its rarity and the recent identification of its genetic basis. With fewer individuals affected, systematic clinical studies have been challenging to conduct, leading to gaps in knowledge about the condition. Ongoing research may help to clarify the clinical features and potential management strategies in the future.
The primary clinical feature of autosomal recessive nonsyndromic hearing loss 55 is hearing impairment, which is present in 100% of affected individuals. This hearing loss typically manifests in infancy and can range from mild to profound, impacting the ability to hear sounds and communicate effectively. There are no additional phenotypic features associated with this condition, as it is classified as nonsyndromic.
To navigate your journey with autosomal recessive nonsyndromic hearing loss 55, consider seeking a specialist in genetic disorders or an audiologist with experience in hereditary hearing loss. Genetic counseling may provide insights into family planning and the implications of the autosomal recessive inheritance pattern. While there are currently no identified patient organizations for this condition, resources like the National Organization for Rare Disorders (NORD) at rarediseases.org may offer support and information. Additionally, exploring opportunities to participate in any future research studies could be beneficial.
Actionable guidance for navigating care for autosomal recessive nonsyndromic hearing loss 55
To navigate your journey with autosomal recessive nonsyndromic hearing loss 55, consider seeking a specialist in genetic disorders or an audiologist with experience in hereditary hearing loss. Genetic counseling may provide insights into family planning and the implications of the autosomal recessive inheritance pattern. While there are currently no identified patient organizations for this condition, resources like the National Organization for Rare Disorders (NORD) at rarediseases.org may offer support and information. Additionally, exploring opportunities to participate in any future research studies could be beneficial.
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.