Disease Directory

Usher syndrome type 1B is a rare inherited condition caused by a mutation in the MYO7A gene. This condition is associated with sensory impairments, an...

Usher syndrome type 1C is a form of Usher syndrome type I. This condition is caused by changes (mutations) in the USH1C gene, which is responsible for...

Usher syndrome type 1D is a form of Usher syndrome type I. It is caused by mutations in the gene that makes a protein called cadherin-23. These mutati...

Usher syndrome type 1E is a form of Usher syndrome type I that has been identified with a unique location on chromosome band 21q21. This condition is...

Usher syndrome type 1F is a form of Usher syndrome that is linked to mutations in the protocadherin-15 gene (PCDH15) on chromosome 10q. This condition...

Usher syndrome type 1G is a rare genetic condition that is part of the broader group known as Usher syndrome. This condition is caused by a mutation i...

Usher syndrome type 1H is a rare inherited condition that is part of the broader group of Usher syndromes. It is characterized by changes in the chrom...

Usher syndrome type 1J is a rare condition caused by a mutation in the CIB2 gene. It is one form of Usher syndrome, a group of disorders that can affe...

Usher syndrome type 1K is a form of Usher syndrome, which is a group of conditions that affect both hearing and vision. This condition has a material...

Usher syndrome type 2 is a condition that affects both hearing and vision. It is characterized by congenital, bilateral sensorineural hearing loss tha...

Usher syndrome type 2A is a genetic condition that is defined by a mutation in the USH2A gene. This form of Usher syndrome is one where the underlying...

Usher syndrome type 2C is a specific form of Usher syndrome type 2. This condition is marked by mutations in two different genes. In people with this...

Usher syndrome type 2D is a genetic condition that is part of the Usher syndrome group. It is caused by a mutation in the WHRN gene, which affects how...

Usher syndrome type 3 is a condition that affects hearing, balance, and vision. It is characterized by progressive hearing loss that begins after a pe...

Usher syndrome type 3A is a rare condition that belongs to a group of disorders known as Usher syndrome. It is caused by changes in the CLRN1 gene. Th...

Usher syndrome type 3B is a rare form of Usher syndrome that is caused by a mutation in the HARS gene. The HARS gene provides instructions for making...

Usher syndrome, type 1D/F is a form of Usher syndrome caused by mutations in two genes, CDH23 and PCDH15. This condition is part of a group of disorde...

Usher syndrome, type 1M is a rare genetic condition that has been linked to changes in the ESPN gene. While details specific to type 1M are limited in...

Usher syndrome, type 4 (also known as Usher syndrome, type IV or USH4) is a rare genetic condition. Although detailed clinical features have not been...

VACTERL association, X-linked, with or without hydrocephalus is a rare congenital condition noted in trusted sources such as OMIM and GARD. While deta...