Global Variome shared LOVD

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Phenotype #0000073500 Individual ID 00095099 Associated disease PVNH4 Phenotype details joint hypermobility (HP:0001382), no dislocations (-HP:0001373), joint pain (HP:0002829), aortic aneurysm (HP:0004942), sinus of valsalva aneurysm (HP:0011645), diffuse ectasia (HP:?), normal valves (-HP:0001654), easy bruising (HP:0000978), soft skin (HP:0000977), normal wound healing (-HP:0001058), normal scars (HP:0001075, HP:0001073), no skin hyperextensibility (-HP:0000974), stretch marks (HP:0001065), normal palate (-HP:0000174), single uvula (HP:0000172), no dysmorphic features (-HP:0001999) Diagnosis/Initial - Inheritance Familial, X-linked dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset <38y 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 2016-09-27 09:19:49 +02:00 (CEST) Date last edited 2016-09-27 09:49:40 +02:00 (CEST)

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