Rare Disease Intelligence

Lethal congenital contracture syndrome is a condition characterized by the presence of joint contractures at birth, where affected individuals exhibit...

Lethal congenital contracture syndrome 1 is a severe genetic condition characterized by a marked reduction in fetal movement and multiple joint contra...

Lethal congenital contracture syndrome 6 is a rare disorder caused by a mutation in the ZBTB42 gene. This condition belongs to a group of congenital c...

Lethal congenital contracture syndrome 7 is a severe, life-limiting condition characterized by multiple congenital contractures. It is caused by mutat...

Lethal congenital glycogen storage disease of heart is a severe condition primarily affecting the cardiac muscle, characterized by abnormal glycogen a...

Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a severe developmental malformation syndrome that affects multiple systems, part...

Lethal hemolytic anemia-genital anomalies syndrome is a severe condition characterized by a form of non-spherocytic, non-immune hemolytic anemia occur...

Lethal multiple pterygium syndrome is a very rare genetic condition that primarily affects the skin, muscles, and skeleton during prenatal development...