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Xeroderma Pigmentosum B-Cockayne Syndrome
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DISO:Disease or Syndrome |
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Rickets and premature primary tooth loss occur in childhood
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DISO:Finding |
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Caused by mutation in the EDAR-associated death domain gene (EDARADD, 606603.0002)
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DISO:Finding |
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Loss of outer hair cell function
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DISO:Finding |
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HYPOTONIA, CONGENITAL NYSTAGMUS, ATAXIA, AND ABNORMAL AUDITORY BRAINSTEM RESPONSES
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DISO:Disease or Syndrome |
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Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response
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DISO:Disease or Syndrome |
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Hypotonia, Congenital Nystagmus, Ataxia, And Abnormal Auditory Brainstem Responses
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DISO:Disease or Syndrome |
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Calcified cricoid cartilage
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DISO:Finding |
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Number of hospital D since last outpatient visit
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DISO:Finding |
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Number of hospital D since last outpatient visit
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DISO:Finding |
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Transfusion volume | Blood product unit
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DISO:Finding |
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Advance directive - medication restrictions
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DISO:Finding |
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Sense of initiative &or involvement
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DISO:Finding |
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Anterior or posterior placement of anus
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DISO:Finding |
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Antinuclear antibody present (in some patients)
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DISO:Finding |
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