Disease Directory

X-linked adrenal hypoplasia congenita is an X-linked condition primarily affecting the adrenal glands, leading to adrenal insufficiency. It is caused...

X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 is a condition linked to changes in a gene found in the Xq22-q28 region. This condition...

Information about the overview is currently limited for this condition.

This condition is an X-linked recessive syndrome caused by changes in the IGSF1 gene. It affects hormone production in the brain, leading to central h...

X-linked cerebellar ataxia is a type of neurological disorder that primarily affects balance and coordination. It is characterized as an X-linked form...

X-linked cerebral adrenoleukodystrophy (X-ALD) is a peroxisomal disorder characterized by severe inflammatory demyelination in the brain, often accomp...

X-linked cerebral-cerebellar-coloboma syndrome is a rare genetic condition that mainly affects brain development. It is characterized by a malformatio...

X-linked chondrodysplasia punctata is a rare skeletal disorder that affects the development of bones and cartilage. The term 'X-linked' indicates that...

Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata. It is a type of primary bone dysplasia that...

X-linked chondrodysplasia punctata 2 is a rare genetic condition. It is described as a genodermatosis, meaning it affects the skin as well as the bone...

X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare genetic disorder. It is mainly characterize...

X-linked complex neurodevelopmental disorder is a condition that affects brain development and function. It is passed down through families via the X...

X-linked complicated corpus callosum dysgenesis is a term that has been historically used to describe a group of features that are now considered part...

X-linked complicated spastic paraplegia type 1, also known as SPG1, is a rare form of L1 syndrome. People with this condition experience spastic parap...

X-linked cone dysfunction syndrome with myopia is a rare eye condition that mainly affects the cones in the retina. People with this condition often e...

X-linked cone-rod dystrophy is a rare genetic eye disorder that affects the cone and rod cells in the retina. These cells are responsible for color vi...

X-linked cone-rod dystrophy 1 is a rare inherited eye condition that affects the retina. This condition is known by several names, including COD1, COR...

X-linked cone-rod dystrophy 2 is a rare genetic condition that affects the retina, the light-sensitive tissue at the back of the eye. This condition i...

X-linked cone-rod dystrophy 3 is a rare inherited eye disorder that affects the retina, the part of the eye that senses light and color. This conditio...

X-linked congenital generalized hypertrichosis is a very rare congenital skin disease that causes excessive hair growth. In males, hair overgrowth com...