Rare Disease Day at NIH Logo
Registration for this year's Rare Disease Day at NIH is now open!
Rare Disease Day at NIH Logo
Registration for this year'sRare Disease Day at NIH is now open!
Rare Disease Day at NIH Logo
Registration for this year'sRare Disease Day at NIH is now open!
Questions about rare diseases?
1-888-205-2311
Questions about rare diseases?
1-888-205-2311
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Showing 1 - 10 of 5958

10q22.3q23 microdeletion syndrome
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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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14q22q23 microdeletion syndrome

Other names: 14q22-q23 microdeletion syndrome, Del(14)(q22q23), Monosomy 14q22-q23, Monosomy 14q22q23

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15q11.2 microdeletion syndrome

Other names: 15q11.2 BP1-BP2 microdeletion syndrome, Del(15)(q11.2), Monosomy 15q11.2

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15q13.3 microdeletion syndrome

Other names: Del(15)(q13.3), Monosomy 15q13.3

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15q13.3 microduplication syndrome
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15q24 microdeletion syndrome

Other names: Del(15)(q24), Monosomy 15q24

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16p13.3 microduplication syndrome

Other names: Distal duplication 16p, Distal trisomy 16p, Dup(16)(p13.3), Telomeric duplication 16p, Trisomy 16pter

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16q24.3 microdeletion syndrome

Other names: Del(16)(q24.3), Monosomy 16q24.3

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17p11.2 microduplication syndrome

Other names: Potocki-Lupski syndrome, Trisomy 17p11.2

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