Deafness – enamel hypoplasia – nail defects (Q59082): Difference between revisions
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Revision as of 06:37, 14 August 2026
This syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1277620176 |
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| English | Deafness – enamel hypoplasia – nail defects |
This syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive. |
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CID11:ID_1277620176
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dki-india-ID_1277620176
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