Disease Directory

Scott syndrome is an extremely rare inherited bleeding disorder. It is characterized by episodes of bleeding due to impaired platelet coagulant activi...

Seckel syndrome is a rare genetic condition that affects many parts of the body. It is known for causing slower growth before birth, resulting in smal...

Seckel syndrome 1 is a rare genetic disorder that results from a mutation in the ATR gene. It is recognized as a form of Seckel syndrome, sometimes re...

Seckel syndrome 10 is a rare genetic disorder that is a form of Seckel syndrome. This condition is caused by a mutation in the NSMCE2 gene. Seckel syn...

Seckel syndrome 11 is a rare genetic condition. Detailed information regarding the overall characteristics and definition of this condition is current...

Seckel syndrome 2 is a rare genetic condition that falls under the group of Seckel syndromes. This disorder is defined by a mutation in the RBBP8 gene...

Seckel syndrome 4 is a rare genetic condition that is a type of Seckel syndrome. It is caused by a mutation in the CENPJ gene, which is important for...

Seckel syndrome 5 is a rare genetic condition that is part of the Seckel syndromes group. It is defined by a mutation in the CEP152 gene, which plays...

Seckel syndrome 6 is a rare genetic condition that is defined by a mutation in the CEP63 gene. It is one type of Seckel syndrome, and its cause is lin...

Seckel syndrome 7, also known as NIN Seckel syndrome or the Dauber type, is a rare genetic condition that affects growth and development starting from...

Seckel syndrome 8 is a rare genetic condition that is part of the Seckel syndrome group. The condition is defined by the presence of a mutation in the...

Seckel syndrome 9 is a rare genetic condition that is classified as a type of Seckel syndrome. This condition is defined by the presence of a mutation...

Sengers syndrome is a rare mitochondrial disease that often presents with a combination of features. This condition is characterized by the presence o...

Senior-Boichis syndrome, also known as Boichis disease or nephronophthisis-hepatic fibrosis syndrome, is a rare disorder characterized by a combinatio...

Senior-Loken syndrome (SLSN) is a very rare condition that affects both the kidneys and the eyes. It is defined as an oculo-renal disease where kidney...

Senior-Loken syndrome 1 is a rare genetic condition caused by a mutation in the NPHP1 gene. It is one form of Senior-Loken syndrome, a group of disord...

Senior-Loken syndrome 4 is a rare genetic condition defined by a mutation in the NPHP4 gene. This condition is one form of Senior-Loken syndrome, and...

Senior-Loken syndrome 5 is a rare genetic condition that is defined by mutations in the IQCB1 gene. This condition is one form of Senior-Loken syndrom...

Senior-Loken syndrome 6 is a form of Senior-Loken syndrome caused by a mutation in the CEP290 gene. This condition is defined by its specific genetic...

Senior-Loken syndrome 7 is a rare genetic condition defined by a mutation in the SDCCAG8 gene. It is one of the forms of Senior-Loken syndrome where c...