Global Variome shared LOVD

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

Phenotype #0000117188 Individual ID 00144417 Associated disease LDS1 Phenotype details Pectus excavatum (HP:0000767), long fingers (HP:0100807), scoliosis (HP:0002650), high palate (HP:0000218), dural ectasia (HP:0100775), ascending aortic aneurysm (HP:0002631), carotid artery tortuosity (HP:0005302), no ectopia lentis (-HP:0001083), no hypertelorism (-HP:0000316), no bifid uvula (-HP:0000193) Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 46y Phenotype/Onset - Protein - Owner name Norifumi Takeda Database submission license No license selected Created by Norifumi Takeda Date created 2017-12-12 08:01:59 +01:00 (CET) Date last edited 2017-12-13 12:17:26 +01:00 (CET)

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