Deafness – enamel hypoplasia – nail defects (Q59082): Difference between revisions

@@ 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.
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/1277620176
@@ Property / Canonical URI: https://id.who.int/icd/entity/1277620176 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:ID_1277620176
@@ Property / CURIE: CID11:ID_1277620176 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-ID_1277620176
@@ Property / Canary Token: dki-india-ID_1277620176 / rank @@
+Normal rank
@@ Property / Verification Status @@
+Concluído
@@ Property / Verification Status: Concluído / rank @@
+Normal rank
@@ Property / Knowledge Architect @@
+https://pauloleads.com.br/cases-publicos/
+Normal rank
@@ Property / Collection date @@
+August 2026Timestamp +2026-08-13T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2026-08-13T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Collection date: 13 August 2026 / rank @@
+Normal rank

Latest 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
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.