Disease Directory

Rubinstein-Taybi syndrome due to CREBBP mutations is a rare genetic disorder caused by changes in the CREBBP gene. People with this condition usually...

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency is a rare genetic condition caused by a mutation in the EP300 gene. This mutation results in...

Russell-silver syndrome, X-linked is a rare condition that is also known by names such as Partington syndrome and Russell-Silver-like syndrome with sk...

Ruvalcaba syndrome is an extremely rare malformation syndrome that has been described in fewer than 10 patients. People with this condition have featu...

SAMD9-related spectrum and myeloid neoplasm risk is a condition caused by a mutation in the SAMD9 gene. This genetic change creates a predisposition t...

Information about overview is currently limited for this condition. There is not enough available detail to provide a thorough description of SAMD9L-a...

SAMD9L-related spectrum and myeloid neoplasm risk is a genetic condition that increases the chance of developing certain blood cancers called myeloid...

SAMHD1-related type 1 interferonopathy is a group of conditions caused by changes in the SAMHD1 gene. These genetic variations lead to problems in how...

SAPHO syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

SATB2 associated disorder is a condition that mainly affects brain development and speech. People with this condition experience significant neurodeve...

Information about overview is currently limited for this condition.

SCARF syndrome is a rare condition characterized by a combination of skeletal abnormalities, loose skin (cutis laxa), skull abnormalities (craniosteno...

SCN4A-related channelopathy is a condition that affects the muscles due to variations in the SCN4 gene. This condition is part of a clinical spectrum...

SCN4A-related myopathy, autosomal recessive is a congenital muscle condition caused by mutations in the SCN4A gene. It represents a spectrum of disord...

SDCCAG8-related ciliopathy is a condition caused by changes in the SDCCAG8 gene. It is classified as a ciliopathy because it affects cilia, the small...

SDHC-related Mitochondrial Disease is caused by pathogenic changes in the SDHC gene, which leads to a deficiency in mitochondrial complex II. Mitochon...

SEC61B-related polycystic liver disease is a type of autosomal dominant polycystic liver disease. It is caused by a mutation in the SEC61B gene, leadi...

SELENON-related myopathy is a rare condition that affects the muscles. It is usually seen at birth or early in childhood. The condition is caused by c...

SERKAL syndrome is a rare condition that affects how the body develops, especially the sexual characteristics and certain organs. It is known for caus...

Information about the overview is currently limited for this condition.