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Adrenal Hyperplasia Congenital (General)
The term congenital adrenal hyperplasia encompasses a group of autosomal recessive disorders, each of which involves a deficiency of an enzyme...
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Acrodermatitis enteropathica (AE) is an autosomal recessive disorder, metabolic disorder affecting the uptake of zinc, characterized by...
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Acid ceramidase deficiency is a extremely rare autosomal recessive lysosomal storage disease that cause an accumulation of fatty material lipids...
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Agenesis of Corpus Callosum is a rare congenital disorder with complete or partial absence of corpus callosum. It may occur in isolation or in...
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Harrington syndrome also called as DiGeorge syndrome is a congenital immunodeficiency characterized by abnormal facies, congenital heart defects,...
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Acidemia propionic is an autosomal recessive metabolic disorder classified as branched chain acidemia. It?s an inherited genetic disorder where the...
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Acidemia Isovaleric is a classical type of organic acidemia. It?s a rare autosomal recessive metabolic disorder which prevents normal metabolism of...
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Haddad syndrome also called as Hirschprung?s disease is a congenital disorder of colon causing chronic constipation. Haddad syndrome which causes...
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Also called as Fetal Retinoid Syndrome. Accutane Embryopathy is a characteristic pattern of mental and physical birth defects that results from...
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Idiopathic Neonatal Hepatitis is rare life-threatening condition where for unknown reason iron accumulates in the liver of the fetus and produces...
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