Global Variome shared LOVD

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Phenotype #0000073504 Individual ID 00095108 Associated disease PVNH4 Phenotype details Joint laxity (HP:0002761), No seizure (HP:0001250), Periventricular heterotopia (HP:0002282), Hypoplasia of corpus callosum (HP:0007370), Syringomyelia (HP:0003396), Dilation of ascending aorta (HP:0005111), Dilation of abdominal aorta (HP:0005112), Dysplastic aortic (HP:0005176), Dysplastic mitral valve (HP:0001633), Dysplastic tricuspid valves (HP:0001702), Tortuous supra-aortic vessels , Elastic skin (HP:0000974), Non dysmorphic face (HP:0001999), Normal palate (HP:0000174), Intestinal malrotation (HP:0002566), Abnormality of elastic fibers Diagnosis/Initial - Inheritance Familial, X-linked dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 00y00m? Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2016-09-28 23:44:07 +02:00 (CEST) Date last edited 2016-10-09 15:18:18 +02:00 (CEST)

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