Global Variome shared LOVD

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Phenotype #0000037120 Individual ID 00050508 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details coarse hair, cupped ear, downslanted palpebral fissures, global developmental delay, prominent occiput, frontal bossing, increased body weight, soft doughy skin, thin upper lip vermilion, smooth philtrum, tapered finger, pes planus Inheritance Isolated (sporadic) Age/Examination - 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 2015-09-27 16:16:40 +02:00 (CEST) Date last edited N/A

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