Stickler syndrome type 4 (Q87056): Difference between revisions

← Older edit

@@ Property / CURIE @@
+CID11:ID_1735024561
@@ Property / CURIE: CID11:ID_1735024561 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-ID_1735024561
@@ Property / Canary Token: dki-india-ID_1735024561 / 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 12:37, 15 August 2026

Autosomal recessive Stickler syndrome is a rare type of Stickler syndrome, found in one family to date, caused by a mutation in the COL9A1 gene, and like other dominantly inherited forms of the disease manifesting with ophthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms

Language	Label	Description	Also known as
default for all languages	ID_1735024561
English	Stickler syndrome type 4	Autosomal recessive Stickler syndrome is a rare type of Stickler syndrome, found in one family to date, caused by a mutation in the COL9A1 gene, and like other dominantly inherited forms of the disease manifesting with ophthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms