17q11.2 duplication (Q95368)
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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 |
||
| 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. |
Statements
CID11:ID_1102310242
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dki-india-ID_1102310242
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