Majeed syndrome | About the Disease | GARD - Genetic and Rare …
Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. The two main features of this condition are chronic recurrent multifocal osteomyelitis …
Revesz syndrome | About the Disease | GARD - Genetic and Rare …
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin …
Mend syndrome | About the Disease | GARD - Genetic and Rare …
MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy …
Chromosome 15q13.3 microdeletion syndrome | About the …
15q13.3 microdeletion syndrome is a genetic disorder caused by a deletion of several genes on chromosome 15. When a syndrome is caused by the deletion of several genes, it is also …
Van maldergem syndrome | About the Disease | GARD - Genetic …
Cerebro-facio-articular syndrome, which is also known as van Maldergem syndrome, is a condition that was first described in 1992. Key features of the condition include characteristic …
Desanto-shinawi syndrome | About the Disease | GARD - Genetic …
Desanto-shinawi syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they …
Mazabraud syndrome | About the Disease | GARD - Genetic and …
Mazabraud syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they …
Image syndrome | About the Disease | GARD - Genetic and Rare …
Image syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may …
Good syndrome | About the Disease | GARD - Genetic and Rare …
Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B …
Fontaine progeroid syndrome | About the Disease | GARD
Fontaine progeroid syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they …
- 某些结果已被删除