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Friedreich's ataxia is an inherited disease that causes progressive damage to the nervous system resulting in symptoms ranging from gait...
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It is also known as papular acrodermatitis of childhood.It occurs in reponse to virla infection in which there will be formation of papular rash...
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Nager Syndrome is a condition which is extremely rare congenital defect with heriditary features which has only 25% of survival rates resulting...
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Ataxia-telangiectasia (A-T) is an autosomal recessive, complex, multisystem disorder characterized by progressive neurologic impairment, cerebellar ataxia...
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Angelman syndrome (AS) is a neuro-genetic disorder characterized by intellectual and developmental delay, sleep disturbance, seizures, jerky...
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Zinsser Cole Engman Syndrome is also known as Cole's syndrome, Cole Rauschkolb Toomey syndrome, Hoyeraal Hreidarsson Syndrome, Zinsser's syndrome,...
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Acid Beta glucosidase Deficiency
Acid- beta glucosidase deficiency is the most common of the lysosomal storage diseases. It is caused by a hereditary deficiency of the enzyme...
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It is also known as Hutchinson-Gilford progeria, Hutchinson-Gilford syndrome, Hutchinson-Gilford disease,Souques-Charcot syndrome (a variant of...
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It is also called as Bernard-Soulier syndrome. It usually occurs in newboen or early child hood. In this condition there will be lack of ability...
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Anemia Congenital Pure Red Cell
Pure red cell aplasia (PRCA) describes a condition in which RBC precursors in bone marrow are nearly absent, while megakaryocytes and WBC...
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