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Registration for this year'sFDA-NIH Rare Disease Day is now open!
Rare Disease Day at FDA-NIH Logo
Registration for this year'sFDA-NIH Rare Disease Day is now open!
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Showing 1 - 10 of 6131

10q22.3q23.3 microduplication syndrome

Other names: dup(10)(q22.3q23.3); trisomy 10q22.3q23.3

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11p15.4 microduplication syndrome

Other names: dup(11)p(15.4); trisomy 11p15.4

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11q22.2q22.3 microdeletion syndrome

Other names: 11q22.2-q22.3 deletion syndrome; Del(11)(q22.2q22.3); monosomy 11q22.2-q22.3; monosomy 11q22.2q22.3

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12q14 microdeletion syndrome

Other names: Del(12)(q14); deletion 12q14; monosomy 12q14; osteopoikilosis-short stature-intellectual disability syndrome

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12q15q21.1 microdeletion syndrome

Other names: Del(12)(q15)(q21.1); deletion 12q15q21.1; monosomy 12q15q21.1

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13q12.3 microdeletion syndrome

Other names: Del(13)(q12.3); monosomy 13q12.3

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14q11.2 microduplication syndrome

Other names: dup(14)(q11.2); trisomy 14q11.2

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14q24.1q24.3 microdeletion syndrome

Other names: Del(14)(q24.1q24.3); monosomy 14q24.1q24.3

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14q32 duplication syndrome

Other names: dup(14)q(32); predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication; trisomy 14q32

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15q overgrowth syndrome

Other names: 15q26 overgrowth syndrome

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