Disease Directory

Autosomal recessive nonsyndromic hearing loss 49 is caused by mutations in the MARVELD2 gene, which encodes the MARVEL domain-containing protein 2. Th...

Autosomal recessive nonsyndromic hearing loss 5 (DFNB5) is a rare genetic condition that causes hearing loss from birth or early childhood. The term '...

Autosomal recessive nonsyndromic hearing loss 51 (DFNB51) is characterized by hearing impairment that is not associated with other clinical features o...

Autosomal recessive nonsyndromic hearing loss 53 is caused by mutations in the COL11A2 gene. This condition is classified as autosomal recessive, mean...

Autosomal recessive nonsyndromic hearing loss 55, also known as DFNB55, is characterized by hearing impairment that is consistently present from infan...

Autosomal recessive nonsyndromic hearing loss 59 is caused by mutations in the PJVK gene. This condition is inherited in an autosomal recessive manner...

Autosomal recessive nonsyndromic hearing loss 6 is a genetic condition that primarily affects the auditory system, resulting in significant hearing im...

Autosomal recessive nonsyndromic hearing loss 61 is caused by mutations in the SLC26A5 gene. This condition is characterized by hearing loss that is n...

Autosomal recessive nonsyndromic hearing loss 62 (DFNB62) is a form of hearing loss characterized by the absence of associated syndromic features. It...

Autosomal recessive nonsyndromic hearing loss 63 is caused by mutations in the LRTOMT gene. This condition is inherited in an autosomal recessive mann...

Autosomal recessive nonsyndromic hearing loss 65 (DFNB65) is characterized by hearing impairment that arises from genetic variations in the chromosome...

Autosomal recessive nonsyndromic hearing loss 66 is a condition that causes hearing loss due to changes in a gene called DCDC2. This condition is inhe...

Autosomal recessive nonsyndromic hearing loss 67 is a condition characterized primarily by sensorineural hearing impairment. It is caused by pathogeni...

Autosomal recessive nonsyndromic hearing loss 68 is caused by mutations in the S1PR2 gene. This condition is characterized by hearing loss that is not...

Autosomal recessive nonsyndromic hearing loss 7 is caused by mutations in the TMC1 gene. This condition is inherited in an autosomal recessive manner,...

Autosomal recessive nonsyndromic hearing loss 70 is a genetic condition primarily characterized by hearing impairment. It is caused by mutations in th...

Autosomal recessive nonsyndromic hearing loss 71 (DFNB71) is characterized by hearing impairment without associated syndromic features. The condition...

Autosomal recessive nonsyndromic hearing loss 74 is caused by mutations in the MSRB3 gene. This condition is characterized by hearing loss that is not...

Autosomal recessive nonsyndromic hearing loss 76 is a condition that primarily affects the auditory system, leading to progressive sensorineural heari...

Autosomal recessive nonsyndromic hearing loss 77 is a condition primarily characterized by bilateral sensorineural hearing impairment. It results from...