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FEBRILE CONVULSIONS, FAMILIAL, 7 (disorder)
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DISO:Disease or Syndrome |
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FEBRILE SEIZURES, FAMILIAL, 7
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DISO:Disease or Syndrome |
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Febrile Convulsions, Familial, 7
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DISO:Disease or Syndrome |
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FEBRILE CONVULSIONS, FAMILIAL, 7
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DISO:Disease or Syndrome |
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Posterior wedging of vertebral bodies
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DISO:Finding |
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Posterior wedging of vertebral bodies
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DISO:Finding |
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Seborrheic keratosis-like papules
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DISO:Finding |
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Absence of platelet dense bodies
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DISO:Finding |
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Neurologic involvement is rare
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DISO:Finding |
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Caused by mutation in the phosphodiesterase 11A gene (PDE11A, 604961.0001)
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DISO:Finding |
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Abnormal sacral segmentation
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DISO:Finding |
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Abnormal sacral segmentation
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DISO:Finding |
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Susceptibility conferred by mutation in the major histocompatibility complex, class II, DR beta-1 gene (HLA-DR1B, 142857.0001)
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DISO:Finding |
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Camptodactyly (4th and 5th fingers)
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DISO:Finding |
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