Global Variome shared LOVD

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Phenotype #0000349779 Individual ID 00462279 Associated disease RNS Phenotype details see paper; ..., pyriform aperture stenosis; fetus characteristic cerebral hyperechogenicity, hypoplastic nose; craniofacial abnormalities, intracranial calcification, osteosclerosis, chondrodysplasia punctata Diagnosis/Initial pyriform aperture stenosis Inheritance Familial, autosomal recessive Diagnosis/Definite RNS Age/Examination 02y (2 years) 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 13:17:47 +01:00 (CET) Date last edited N/A

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