Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000319164 Individual ID 00428259 Associated disease EDSCL1 Diagnosis/Initial EDS Diagnosis/Definite EDS Phenotype details Fragile skin from early childhood - plastic surgery required for degloving incidents. inguinal hernia repair 8yr; recurrent dislocations; early periodontal disease and teeth loss. 'pseudotumour' molluscoid lumps over hand and elbows - work related. Aortic aneurysm detected age 50yr (aortic root 45mm) when evaluated for syncopal episode. Inheritance Isolated (sporadic) Age/Examination 53 Age/Diagnosis <10y Age/Onset - Phenotype/Onset bilateral talipes at birth. Owner name Felicity Collins Database submission license No license selected Created by Felicity Collins Date created 2022-12-28 02:28:10 +01:00 (CET) Date last edited 2024-10-17 13:08:27 +02:00 (CEST)

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