Global Variome shared LOVD

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Phenotype #0000201942 Individual ID 00264099 Associated disease RNS Phenotype details see paper; ..., gestation 37w; survived <10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, thoracic hypoplasia, no pulmonary hypoplasia Diagnosis/Initial lethal sclerosing bone dysplasia 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 2019-09-11 13:01:03 +02:00 (CEST) Date last edited 2019-09-11 13:50:02 +02:00 (CEST)

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