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Children's Health

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

Acrodermatitis enteropathica (AE) is an autosomal recessive disorder, metabolic disorder affecting the uptake of zinc, characterized by...

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Acid Ceramidase Deficiency

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

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

Harrington syndrome also called as DiGeorge syndrome is a congenital immunodeficiency characterized by abnormal facies, congenital heart defects,...

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Acidemia Propionic

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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837 Views

Acidemia Isovaleric

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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806 Views

Haddad syndrome

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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Accutane Embryopathy

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

Idiopathic Neonatal Hepatitis is rare life-threatening condition where for unknown reason iron accumulates in the liver of the fetus and produces...