Disease Directory

Cataract 31 multiple types is an early-onset non-syndromic cataract caused by mutations in the CHMP4B gene. This condition follows an autosomal domina...

Cataract 32 multiple types is characterized by its autosomal dominant inheritance pattern, indicating that one copy of the mutated gene from an affect...

Cataract 33 is an early-onset non-syndromic cataract caused by mutations in the BFSP1 gene that affect the clarity of the lens. People with this condi...

Cataract 34 multiple types is caused by mutations in the FOXE3 gene, which is inherited in an autosomal recessive manner. This means that both copies...

Cataract 35, also known as autosomal recessive congenital nuclear cataract 1, is a rare form of cataract that is associated with genetic variations in...

Cataract 37 is characterized by its autosomal dominant inheritance pattern, indicating that a single copy of the mutated gene from an affected parent...

Cataract 38 is an early-onset non-syndromic cataract that primarily affects the lens of the eye, leading to visual impairment from infancy. This condi...

Cataract 39 multiple types is an early-onset non-syndromic cataract that affects the lens of the eye, leading to opacity and vision changes. It is cau...

Cataract 4 multiple types is a condition caused by mutations in the CRYGD gene, which is inherited in an autosomal dominant manner. This means that a...

Cataract 40 is an early-onset non-syndromic cataract caused by mutations in the NHS gene, which is inherited in an X-linked manner. This condition lea...

Cataract 41 is an early-onset non-syndromic cataract caused by mutations in the WFS1 gene, which is inherited in an autosomal dominant manner. While t...

Cataract 42 is an early-onset non-syndromic eye condition characterized primarily by the development of cataracts, which are present in all affected i...

Cataract 43 is an early-onset non-syndromic cataract that affects the lens of the eye and is caused by a mutation in the UNC45B gene. It is characteri...

Cataract 44 is an early-onset non-syndromic cataract that results from mutations in the LSS gene. This condition affects the lens of the eye, leading...

Cataract 45 is an early-onset non-syndromic cataract caused by mutations in the SIPA1L3 gene. This condition follows an autosomal recessive inheritanc...

Cataract 46 juvenile-onset is an early-onset form of non-syndromic cataract that primarily affects children and adolescents. The condition is caused b...

Cataract 48 is an inherited eye condition primarily characterized by the early development of cataracts, which are opacities in the lens that affect v...

Cataract 5 multiple types is caused by mutations in the HSF4 gene, which is inherited in an autosomal dominant manner. This means that a single copy o...

Cataract 6 multiple types is an ocular condition characterized by lens opacity primarily affecting the posterior polar region. It is caused by mutatio...

Cataract 7, also known as congenital cerulean type cataract 1, is defined by its occurrence in individuals with variations in the region 17q24. It is...