Disease Directory

Autosomal recessive nonsyndromic hearing loss 28 is caused by mutations in the TRIOBP gene, which encodes a protein involved in actin binding and cell...

Autosomal recessive nonsyndromic hearing loss 29 is caused by mutations in the CLDN14 gene. This condition leads to hearing loss that is not associate...

Autosomal recessive nonsyndromic hearing loss 3 is caused by mutations in the MYO15A gene. This condition is inherited in an autosomal recessive manne...

Autosomal recessive nonsyndromic hearing loss 30 is caused by mutations in the MYO3A gene. This condition is inherited in an autosomal recessive manne...

Autosomal recessive nonsyndromic hearing loss 31 is a condition characterized primarily by sensorineural hearing impairment, which results from mutati...

Autosomal recessive nonsyndromic hearing loss 32 is a form of inherited deafness that presents with prelingual, severe to profound, and stable hearing...

Autosomal recessive nonsyndromic hearing loss 33, also known as DFNB33, is a form of deafness that arises from genetic variations in the chromosome re...

Autosomal recessive nonsyndromic hearing loss 35 is a condition characterized by sensorineural hearing impairment due to mutations in the ESRRB gene....

Autosomal recessive nonsyndromic hearing loss 36 is caused by mutations in the ESPN gene. This condition is characterized by hearing loss that is not...

Autosomal recessive nonsyndromic hearing loss 37 is a genetic condition that primarily affects the auditory system. It is caused by mutations in the M...

Autosomal recessive nonsyndromic hearing loss 38, also known as DFNB38, is characterized by hearing impairment that is not associated with other syndr...

Autosomal recessive nonsyndromic hearing loss 39 is caused by mutations in the HGF gene, which encodes the hepatocyte growth factor receptor. This con...

Autosomal recessive nonsyndromic hearing loss 4 is a condition that primarily affects the auditory system and is characterized by sensorineural hearin...

Autosomal recessive nonsyndromic hearing loss 40 (DFNB40) is characterized by hearing impairment due to variations in the chromosome region 22q11.21-q...

Autosomal recessive nonsyndromic hearing loss 42 is caused by mutations in the ILDR1 gene. This condition is characterized by hearing loss that is not...

Autosomal recessive nonsyndromic hearing loss 44 is caused by mutations in the ADCY1 gene. This condition is inherited in an autosomal recessive manne...

Autosomal recessive nonsyndromic hearing loss 45, also known as DFNB45, is characterized by prelingual sensorineural hearing impairment. The condition...

Autosomal recessive nonsyndromic hearing loss 46 (DFNB46) is characterized by profound sensorineural hearing impairment, which is always present in af...

Autosomal recessive nonsyndromic hearing loss 47 is characterized by hearing impairment, which is always present. This condition is linked to genetic...

Autosomal recessive nonsyndromic hearing loss 48 is caused by mutations in the CIB2 gene. This condition is characterized by the absence of other asso...