Global Variome shared LOVD

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Phenotype #0000349786 Individual ID 00462287 Associated disease ? Diagnosis/Initial severe fetal anomalies Diagnosis/Definite RNS Phenotype details see paper; ..., 25gw-brachycephaly, exophthalmos, short nose with depressed root, broad clavicles, belt-shaped thorax, increased density long bones/base skull, brain calcification Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - 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 14:14:11 +01:00 (CET) Date last edited N/A

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