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DeCS
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Descriptor English:
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Jacobsen Distal 11q Deletion Syndrome
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Descriptor Spanish:
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Síndrome de Deleción Distal 11q de Jacobsen
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Descriptor Portuguese:
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Síndrome da Deleção Distal 11q de Jacobsen
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Synonyms English:
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11q Deletion Disorder
11q Deletion Syndrome
11q Terminal Deletion Disorder
11q- Deletion Syndrome
11q- Deletion Syndromes
11q23 Deletion Disorder
Chromosome 11q Deletion Syndrome
Deletion Disorder, 11q
Deletion Disorder, 11q23
Deletion Syndrome, 11q-
Jacobsen Syndrome
Jacobsen Thrombocytopenia
Paris Trousseau Syndrome
Paris Trousseau Thrombocytopenia
Paris-Trousseau Syndrome
Paris-Trousseau Thrombocytopenia
Paris-Trousseau Type Thrombocytopenia
Paris-Trousseau Type Thrombocytopenias
Partial 11q Monosomy Syndrome
Thrombocytopenia, Jacobsen
Thrombocytopenia, Paris Trousseau Type
Thrombocytopenia, Paris-Trousseau
Thrombocytopenia, Paris-Trousseau Type
Type Thrombocytopenia, Paris-Trousseau
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Tree Number:
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C15.378.140.855.440
C16.131.260.440
C16.320.180.440
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Definition English:
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A clinically recognized congenital malformation condition caused by a distal 11q deletion. The features of the syndrome are growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, and hammertoes. Platelet dysfunction is a feature in Paris-Trousseau type thrombocytopenia. |
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History Note English:
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2008
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Allowable Qualifiers English:
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Record Number:
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52622
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Unique Identifier:
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D054868
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Occurrence in VHL:
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Similar:
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DeCS
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