Disease Directory

X-linked retinal dysplasia is a rare condition that affects the retina, the light-sensitive tissue at the back of the eye. This condition is considere...

X-linked retinoschisis is a genetic eye condition characterized by early-onset macular degeneration that results in reduced visual acuity. It is cause...

X-linked scapuloperoneal muscular dystrophy is a skeletal muscle condition that usually begins later in life. People with this condition experience we...

X-linked severe congenital neutropenia is an immunodeficiency syndrome that primarily affects males. People with this condition experience problems wi...

Information about the overall condition is currently limited for this condition.

X-linked sideroblastic anemia 1 is a rare inherited blood condition that affects how iron is used in the body. In this disorder, people may have diffi...

X-linked sideroblastic anemia with ataxia is a rare inherited condition. It is marked by a type of anemia where red blood cells are not made correctly...

Information about overview is currently limited for this condition.

X-linked spermatogenic failure 1 is a condition that affects the ability of people with this condition to produce sperm. In affected individuals, the...

X-linked spinocerebellar ataxia type 3 is a rare form of spinocerebellar degeneration. It begins in infancy and is marked by low muscle tone (hypotoni...

X-linked spinocerebellar ataxia type 4 is a rare condition that mainly affects movement and memory. It is characterized by difficulties with coordinat...

X-linked spondyloepimetaphyseal dysplasia is a rare genetic condition. It is described as the X-linked form of spondyloepimetaphyseal dysplasia. This...

X-linked syndromic complex neurodevelopmental disorder is a condition that is passed on through the X chromosome. It involves different features relat...

XFE progeroid syndrome is a condition marked by unusual aging features. People with this condition may have a bird-like facial appearance, reduced bod...

XK aprosencephaly is a very rare disorder that affects the brain and other parts of the body. People with this condition have a type of cerebral malfo...

This condition, known as XY type gonadal dysgenesis-associated anomalies syndrome, is a very rare association syndrome that has been described in only...

XYLT1-congenital disorder of glycosylation, also known as XYLT1-CDG or XYLT18-CDG, is a rare condition that is identified in specialized resources suc...

Xp22.13p22.2 duplication syndrome, also known as Duplication Xp22, dup(X)(p22), or dup(X)(p22.13p22.2), is a rare condition that involves extra geneti...

Xp22.3 microdeletion syndrome is a condition caused by a small deletion on the X chromosome. The syndrome shows a wide range of features, and the seve...

Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly that happens when a part of the long arm of the X chromosome is duplicated. This conditi...