Global Variome shared LOVD

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Phenotype #0000242922 Individual ID 00324379 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., frontal upsweep, lighter blond hair corona in front, hypertelorism, ptosis eyelids predominantly left, periorbital fullness, straight sparse eyebrows, flat nasal bridge, short nose, thin upper lip, short fingers, broad distal phalanges Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Bregje van Bon Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-12-07 19:16:12 +01:00 (CET) Date last edited N/A

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