Lethal ataxia with deafness and optic atrophy (Q61896): Difference between revisions

@@ description / pt-br / description / pt-br @@
+A ataxia letal com surdez e atrofia óptica (também conhecida como síndrome de Arts) é um distúrbio do metabolismo das purinas caracterizado por deficiência intelectual, hipotonia de início precoce, ataxia, atraso no desenvolvimento motor, deficiência auditiva e perda de visão devido à atrofia óptica, suscetibilidade a infecções e, posteriormente, tetraplegia flácida e arreflexia.
@@ description / en / description / en @@
+Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is a disorder of purine metabolism characterised by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy, susceptibility to infections, and later, flaccid tetraplegia and areflexia.
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/1859847483
@@ Property / Canonical URI: https://id.who.int/icd/entity/1859847483 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:ID_1859847483
@@ Property / CURIE: CID11:ID_1859847483 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-ID_1859847483
@@ Property / Canary Token: dki-india-ID_1859847483 / 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 09:23, 14 August 2026

Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is a disorder of purine metabolism characterised by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy, susceptibility to infections, and later, flaccid tetraplegia and areflexia.

Language	Label	Description	Also known as
default for all languages	ID_1859847483
English	Lethal ataxia with deafness and optic atrophy	Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is a disorder of purine metabolism characterised by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy, susceptibility to infections, and later, flaccid tetraplegia and areflexia.