Global Variome shared LOVD

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Phenotype #0000349760 Individual ID 00462260 Associated disease RNS Phenotype details see paper; ..., hypoplastic amelogenesis imperfecta (abnormal dental enamel formation), mild facial dysmorphism, no other obvious skeletal/growth abnormalities; mild hypophosphataemia and soft tissue ectopic mineralization Diagnosis/Initial Raine syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite RNS 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 2025-02-07 09:27:49 +01:00 (CET) Date last edited N/A

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