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Congenital bile acid synthesis defect caused by mutation in HSD3B7 is a rare inherited liver and metabolism disease. It is also called congenital bile acid synthesis...
3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency type 1 is a very rare inherited disease of bile acid making. It happens when the body cannot properly do one important step...
3-beta-hydroxy-delta-5-c27-steroid dehydrogenase deficiency is a very rare inherited liver disease. It is one of the bile acid synthesis disorders. In this condition, the liver cannot make...
Congenital bile acid synthesis defect 1 is a rare inherited liver disease. It happens when the body cannot make normal bile acids in the right way....
Perisylvian syndrome usually means congenital bilateral perisylvian syndrome, a rare brain development disorder. In this condition, the outer part of the brain around the Sylvian fissure...
Bilateral perisylvian polymicrogyria is a brain development problem that starts before birth. In this condition, the brain area around the Sylvian fissures on both sides develops...
Congenital bilateral perisylvian syndrome, often linked to bilateral perisylvian polymicrogyria, is a rare brain development disorder present before birth. In this condition, the brain area around...
Congenital axonal neuropathy with encephalopathy is a very rare inherited nerve disease that starts at birth or very soon after birth. “Congenital” means present from birth....
Congenital autosomal recessive small-platelet thrombocytopenia is a very rare inherited blood disorder. “Congenital” means a person is born with it. “Autosomal recessive” means the child usually...
Congenital aortopulmonary septal defect is a very rare birth defect of the heart. It is also called an aortopulmonary window. In this condition, there is an...
Congenital aortopulmonary artery fistula is a very rare heart blood vessel defect present from birth. In very simple words, it means there is an abnormal passage...
Congenital aortopulmonary window is a rare heart defect present at birth. In this condition, there is an abnormal opening between the ascending aorta and the main...
