17q11.2 duplication (Q95368): Difference between revisions
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15 August 2026
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Latest revision as of 11:06, 16 August 2026
17q11.2 microduplication syndrome is a chromosomal anomaly characterised by craniofacial dysmorphic features including microcephaly, long midface, malar hypoplasia, sparse eyebrows and thin upper lip, and intellectual deficit, early onset of baldness (15 years of age) and dental enamel hypoplasia.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1102310242 |
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| English | 17q11.2 duplication |
17q11.2 microduplication syndrome is a chromosomal anomaly characterised by craniofacial dysmorphic features including microcephaly, long midface, malar hypoplasia, sparse eyebrows and thin upper lip, and intellectual deficit, early onset of baldness (15 years of age) and dental enamel hypoplasia. |
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CID11:ID_1102310242
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dki-india-ID_1102310242
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Concluído
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15 August 2026
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