autosomal recessive nonsyndromic hearing loss 124

Autosomal recessive nonsyndromic hearing loss 124 is associated with variants in the PKHD1L1 gene. This condition is inherited in an autosomal recessive manner, meaning that both copies of the gene in each cell have mutations. Individuals with this condition typically present with sensorineural hearing impairment, which is consistently observed in affected individuals. However, detailed clinical definitions and prevalence statistics are not well characterized, highlighting the need for further research and understanding of this condition.

The primary clinical feature of autosomal recessive nonsyndromic hearing loss 124 is sensorineural hearing impairment. This type of hearing loss occurs due to issues in the inner ear or the auditory nerve pathways to the brain. It is characterized by the inability to hear sounds clearly, which can impact communication and quality of life. The severity of hearing impairment can vary, but it is always present in affected individuals.

Documentation on autosomal recessive nonsyndromic hearing loss 124 is limited primarily due to the rarity of the condition and the recent identification of its genetic basis. Conditions affecting hearing loss often overlap phenotypically, making it challenging to isolate specific features. As a result, systematic clinical studies have not been extensively conducted, leading to gaps in knowledge regarding its clinical management and long-term outcomes.