Disease Directory

Information about the overview is currently limited for this condition.

X-linked congenital stationary night blindness is a disorder that affects the retina, the light-sensitive tissue at the back of the eye. People with t...

X-linked corneal dermoid is a very rare, benign growth on the eye that is present at birth. It appears as an opacification of the cornea with superfic...

X-linked diffuse leiomyomatosis-Alport syndrome is a rare condition that affects the kidneys and other parts of the body. It is defined by the associa...

X-linked distal spinal muscular atrophy type 3 is a rare condition that affects the nerves controlling the muscles in the hands and feet. It causes sl...

X-linked dominant chondrodysplasia, Chassaing-Lacombe type is a rare genetic bone disorder. It is characterized by abnormal bone development (chondrod...

X-linked dominant hypophosphatemic rickets is a hereditary renal phosphate-wasting disorder that chiefly affects bone mineralization, leading to ricke...

Information about overview is currently limited for this condition.

X-linked dyserythropoetic anemia with abnormal platelets and neutropenia is a rare inherited blood disorder. Details about the condition are still bei...

X-linked dystonia-parkinsonism (XDP), also known as Lubag, is a rare neurodegenerative movement disorder that usually begins in adulthood. It is marke...

X-linked endothelial corneal dystrophy (XECD) is a rare type of posterior corneal dystrophy. It is characterized by a ground glass appearance or a dif...

X-linked erythropoietic protoporphyria is a rare condition that affects the way the body makes a molecule called protoporphyrin IX (PPIX). The disease...

X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome is a rare condition that involves differences in...

This rare condition is known by the name X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability. People w...

X-linked hereditary sensory and autonomic neuropathy with hearing loss is a rare condition that affects the nerves which help in sensing touch, pain,...

X-linked hydrocephalus with stenosis of the aqueduct of Sylvius is a severe form of L1 syndrome that usually appears before birth. In this condition,...

X-linked hypohidrotic ectodermal dysplasia is an inherited condition affecting the development of the skin, hair, teeth, and sweat glands. It results...

X-linked hypophosphatemic rickets is a rare disease. Detailed information about this condition is currently limited in medical literature.

X-linked ichthyosis syndrome is a form of inherited ichthyosis where changes related to the X chromosome are involved. This condition is described as...

X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency. People w...