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View Parent Category Genetic Disorders

The metabolic and developmental disorders caused in whole or in part by a change in the DNA sequence away from the normal sequence; including single-gene disorders (eg, sickle cell anemia), chromosomal disorders (eg, Beckwith-Wiedemann syndrome, Down syndrome, Prader-Willi syndrome), and, multifactorial disorders (eg, VATER syndrome).

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WAGR syndrome complications
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Fragile X syndrome
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Genetic disorders have somewhat been identified...
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Which syndrome is assoc w/ a terminal deletion...
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Von Hippel Lindau (VHL) disease is a rare, auto...
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Angelman syndrome chromosome 15
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Usher syndrome overview
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Hemophilia refers to a group of bleeding disorders
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Aneuploidy is a condition where number of chrom...
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Klinefelter syndrome 47 XXY
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Fragile X syndrome
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What is Shwachman-Diamond syndrome?
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Apert syndrome is a form of acrocephalosyndactyly
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Ataxia-Telangiectasia or Louis-Bar Syndrome
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How Is Bardet-Biedl Syndrome (BBS) Defined?
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Centronuclear Myopathies are a group of congen...
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Symptoms of Cohen Syndrome or Pepper Syndrome o...
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What is Exaggerated Startle Response?
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Signs and Symptoms of Familial Mediterranean Fe...
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Farber's Lipogranulomatosis or Ceramidase Defic...
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Fibrodysplasia Ossificans Progressiva
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What is Fragile X Syndrome?
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Fraser Syndrome: Causes, Symptoms, Diagnosis, T...
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Organs affected by Galactosemia
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Galloway-Mowat Syndrome
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What is Gitelman Syndrome?
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Hurler syndrome, also known as mucopolysacchari...
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What Is Hypophosphatasia?
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What is Kniest Dysplasia or Kniest Syndrome?
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Macular Degeneration Treatment
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The Symptoms in the Infantile Form of Metachrom...
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What Is Methylmalonic Acidemia?
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Nail-Patella Syndrome
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Norrie Disease is one such type of disease
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Prader-Willi Syndrome (PWS)
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What is Progeria Syndrome?
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Treatment for Progeria Syndrome
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What Are The Symptoms Of Sanfilippo Syndrome?
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What is Cowden Disease?
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What Is Xeroderma Pigmentosum?
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What is Angiomatosis?
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What is Crouzon Syndrome
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What is Young's Syndrome?
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What is Carney Complex?
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What is McCune-Albright Syndrome?
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What is Angelman Syndrome?
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Living with Adrenoleukodystrophy
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What is Alpers' Disease?
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What are the Symptoms of Krabbe Disease?
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Batten Disease primarily affects the nervous sy...
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