Disease Directory

Autosomal recessive nonsyndromic hearing loss 79 is caused by mutations in the TPRN gene. This condition is inherited in an autosomal recessive manner...

Autosomal recessive nonsyndromic hearing loss 8 is caused by mutations in the TMPRSS3 gene located on chromosome 21q22. This condition leads to hearin...

Autosomal recessive nonsyndromic hearing loss 83 (DFNB83) is characterized by hearing loss that arises from variations in the chromosome region 9p23-p...

Autosomal recessive nonsyndromic hearing loss 84A is caused by mutations in the PTPRQ gene. This condition is characterized by hearing loss that is no...

Autosomal recessive nonsyndromic hearing loss 84B is a condition primarily affecting the auditory system, resulting in sensorineural hearing impairmen...

Autosomal recessive nonsyndromic hearing loss 85 (DFNB85) is characterized by hearing impairment caused by genetic variations, specifically linked to...

Autosomal recessive nonsyndromic hearing loss 86 is a condition characterized by hearing impairment without additional syndromic features. It is cause...

Autosomal recessive nonsyndromic hearing loss 88 is a genetic condition characterized by hearing impairment that is present from an early age. It aris...

Autosomal recessive nonsyndromic hearing loss 89 is a condition that primarily affects auditory function, resulting in sensorineural hearing impairmen...

Autosomal recessive nonsyndromic hearing loss 9 is a condition characterized by sensorineural hearing impairment. It results from mutations in the OTO...

Autosomal recessive nonsyndromic hearing loss 91 is caused by mutations in the SERPINB6 gene. This condition is inherited in an autosomal recessive pa...

Autosomal recessive nonsyndromic hearing loss 93 is caused by mutations in the CABP2 gene. This condition is inherited in an autosomal recessive manne...

Autosomal recessive nonsyndromic hearing loss 96, also known as DFNB96, is characterized by hearing impairment that is not associated with other syndr...

Autosomal recessive nonsyndromic hearing loss 97 is an inherited condition characterized primarily by sensorineural hearing impairment. It is caused b...

Autosomal recessive nonsyndromic hearing loss 98 is a genetic condition characterized primarily by sensorineural hearing impairment. The disorder is c...

Autosomal recessive ocular albinism is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Autosomal recessive omodysplasia is a rare skeletal dysplasia associated with variants in the GPC6 gene. This condition is characterized by abnormal b...

Autosomal recessive optic atrophy, OPA7 type, is a very rare inherited disorder that mainly affects the eyes. The condition damages the optic nerve, w...

Autosomal recessive osteopetrosis is characterized by the failure of osteoclasts to resorb bone, leading to increased bone mass but skeletal fragility...

Autosomal recessive osteopetrosis 1 is a hereditary bone disorder that interferes with the normal breakdown and rebuilding of bone, leading to very de...