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Ataxia Telangiectasia

Ataxia-telangiectasia (A-T) is an autosomal recessive, complex, multisystem disorder characterized by progressive neurologic impairment, cerebellar ataxia...
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Angelman Syndrome

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

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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Gilford Syndrome

It is also known as Hutchinson-Gilford progeria, Hutchinson-Gilford syndrome, Hutchinson-Gilford disease,Souques-Charcot syndrome (a variant of...
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Giant platelet syndrome

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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Alport Syndrome

Alport syndrome is a genetic disorder characterized by glomerulonephritis, end stage kidney disease, and hearing loss. Alport syndrome can also...
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Amyotrophic Lateral Sclerosis (ALS)

Amyotrophic Lateral Sclerosis (ALS) is a form of motor neuron disease which is progressive, fatal, neurodegenerative disease caused by the...
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Encopresis or Soiling or stool holding

It affects around 1% to 2% of kids under the age of 10. Most encopresis cases (90%) are due to functional constipation ? that is, constipation that...
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