Global Variome shared LOVD

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

Phenotype #0000317226 Individual ID 00426062 Associated disease ? Diagnosis/Initial arterial tortuosity, fractures Diagnosis/Definite - Phenotype details see paper; ..., short palpebral fissures; downslanted palpebral fissures; epicanthus; blue sclerae; convex nasal ridge; wide nasal ridge; thin upper lip; flat philtrum; highly arched palate; dolichocephaly; aortic tortuosity; no aortic root dilatation; no coarctation of the aorta; no arterial stenosis; no abnormal implantation of aortic branches; no arterial dissection; joint hyperlaxity; fractures; neonatal/4y-4 fractures; no muscle hypotonia; cutis laxa; thin, velvety skin; no petechiae at birth; no cephalohematoma; no respiratory distress; no hydronephrosis; seizures Inheritance Familial, autosomal recessive Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-11-27 11:12:52 +01:00 (CET) Date last edited 2022-11-27 11:13:40 +01:00 (CET)

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