Deafness – enamel hypoplasia – nail defects (Q59082): Difference between revisions
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| description / pt-br | description / pt-br | ||
Esta síndrome é caracterizada por perda auditiva neurossensorial, hipoplasia generalizada do esmalte da dentição permanente com dentição decídua normal e defeitos ungueais (linhas de Beau e leuconíquia). Menos de 10 pacientes foram descritos até agora. A transmissão é autossômica recessiva. | |||
| description / en | description / en | ||
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. | |||
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. |
