Hypotonia-cystinuria type 1 (Q44714): Difference between revisions

@@ description / pt-br / description / pt-br @@
+Esta é uma síndrome rara incluindo hipotonia neonatal e infantil e atraso de crescimento, cistinúria tipo 1, nefrolitíase, atraso de crescimento devido à deficiência de hormônio do crescimento e dismorfismo facial menor devido a uma deleção homozigótica de dois genes contíguos no cromossomo 2: SLC3A1 e PREP ( 2p21).
@@ description / en / description / en @@
+This is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism due to a homozygous deletion of two contiguous genes on chromosome 2: SLC3A1 and PREP (2p21).
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/1852649756
@@ Property / Canonical URI: https://id.who.int/icd/entity/1852649756 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:GB90.40
@@ Property / CURIE: CID11:GB90.40 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-GB90.40
@@ Property / Canary Token: dki-india-GB90.40 / 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
@@ Property / Linked ICD 10 @@
+N25
@@ Property / Linked ICD 10: N25 / rank @@
+Normal rank

Latest revision as of 12:19, 13 August 2026

This is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism due to a homozygous deletion of two contiguous genes on chromosome 2: SLC3A1 and PREP (2p21).

Language	Label	Description	Also known as
default for all languages	GB90.40
English	Hypotonia-cystinuria type 1	This is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism due to a homozygous deletion of two contiguous genes on chromosome 2: SLC3A1 and PREP (2p21).