X-linked mandibulofacial dysostosis (Q86229)
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X-linked mandibulofacial dysostosis is characterised by microcephaly, learning disability and anomalies of the branchial arches with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, bilateral hearing loss, and a slightly webbed neck.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_135565112 |
||
| English | X-linked mandibulofacial dysostosis |
X-linked mandibulofacial dysostosis is characterised by microcephaly, learning disability and anomalies of the branchial arches with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, bilateral hearing loss, and a slightly webbed neck. |
Statements
CID11:ID_135565112
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dki-india-ID_135565112
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Concluído
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13 August 2026
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