Global Variome shared LOVD

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Phenotype #0000079443 Individual ID 00101205 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, X-linked recessive Phenotype details see paper; ..., prominent supraorbital ridges, down-slanted palpebral fissures, sagging cheeks, long face, high palate, pointed chin Age/Examination - Age/Diagnosis - Age/Onset - 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 2017-03-19 15:37:26 +01:00 (CET) Date last edited N/A

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