Global Variome shared LOVD

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Phenotype #0000356478 Individual ID 00471671 Associated disease NDD Diagnosis/Initial GAPO syndrome Diagnosis/Definite GAPOS Phenotype details see paper; ..., absence lower anterior teeth; 2d-surgery anal atresia; 1y6m-surgery ankyloglossia; 7y-mild brachycephaly, low hanging columella, hypoplastic alae nasi, retrognathia; 7y-height 123 cm (50-75th), weight 22 kg (25-50th), OFC 52 cm (25th); 10y-oligodontia (absence lower incisors/canines/two upper premolars/all four lower premolars) Inheritance Familial, autosomal recessive Age/Examination 7y (7 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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