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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1295 Views
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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1480 Views
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
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Alport Syndrome
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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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4624 Views