Global Variome shared LOVD

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Phenotype #0000356481 Individual ID 00471674 Associated disease NDD Diagnosis/Initial GAPO syndrome Diagnosis/Definite GAPOS Phenotype details see paper; ..., flat nasal bridge, telecanthus, protruding tongue; buphthalmos, megalocornea, hypertelorism, no eyelashes Inheritance Familial, autosomal recessive Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-12-29 16:31:13 +01:00 (CET) Date last edited N/A

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