Global Variome shared LOVD

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Phenotype #0000349768 Individual ID 00462268 Associated disease RNS Phenotype details see paper; ..., hypophosphatemia; prenatal ultrasound nasal bone agenesis; large anterior fontanel, frontal bossing, exophthalmos, hypoplastic nose, high arched palate, low set ears, triangular mouth, corneal opacification Diagnosis/Initial hypophosphatemia Inheritance Familial, autosomal recessive Diagnosis/Definite RNS Age/Examination 00y09m (9 months) 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 10:53:22 +01:00 (CET) Date last edited N/A

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