Disease Directory

X-linked lymphoproliferative disease due to SH2D1A deficiency is a rare genetic primary immunodeficiency disorder. It is characterized by an abnormal...

X-linked lymphoproliferative disease due to XIAP deficiency is a condition caused by changes in the XIAP gene, leading to a deficient or absent protei...

X-linked lymphoproliferative syndrome is a rare inherited immunodeficiency. In most cases, the condition leads to an inadequate immune response agains...

X-linked mandibulofacial dysostosis is an extremely rare condition that affects many parts of the body and is present from birth. People with this con...

X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare condition that affects growth and development. People with this...

X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare genetic condition that mainly affects males. It i...

X-linked myopathy with excessive autophagy is a genetic muscle disorder that usually begins in childhood. It is marked by a slow progression of muscle...

X-linked myopathy with postural muscle atrophy is a rare and progressive muscle disease. It mainly affects adults and is characterized by weakness in...

X-linked myotubular myopathy is a congenital myopathy that primarily affects skeletal muscles, presenting at birth with marked weakness, hypotonia, an...

X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly characterized by a combination of a severe congenital myopathy...

X-linked neurodegenerative syndrome, Bertini type is a rare condition that has been described in seven males from three generations of one family. It...

X-linked neurodegenerative syndrome, Hamel type is a very rare genetic condition that has been observed in about ten male members across two generatio...

X-linked non progressive cerebellar ataxia is a rare hereditary condition that affects balance and coordination. People with this condition experience...

X-linked nonsyndromic hearing loss is a form of deafness that is passed down through the X chromosome. This means that the pattern of inheritance is l...

X-linked osteoporosis with fractures is a rare condition that appears to affect bone strength, leading to an increased risk of fractures. The term 'X-...

X-linked parkinsonism-spasticity syndrome is a rare neurological disorder with a genetic basis. It is characterized by parkinsonian features such as r...

X-linked progressive cerebellar ataxia is a rare inherited neurological condition that mainly affects the cerebellum, the part of the brain that contr...

X-linked recessive mitochondrial myopathy is a rare condition caused by defects in the APOO gene, which codes for the MIC26 protein. Faulty MIC26 disr...

X-linked recessive ocular albinism is a rare condition that mainly affects the eyes in males. This disorder is marked by changes in eye pigment, devel...

X-linked reticulate pigmentary disorder is an extremely rare skin condition that has been described in only four families. In males, the condition is...