Global Variome shared LOVD

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Phenotype #0000210171 Individual ID 00275555 Associated disease ? Diagnosis/Initial multiple congenital malformations Diagnosis/Definite VCRL1 Phenotype details vertebral segmentation defects; atrial septal defect; renal hypoplasia, vesicoureteral reflux; limb defects talipes; sensorineural hearing loss, Mondini defect; short stature, global developmental delay, intellectual disability, laryngeal web, laryngomalacia 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 2020-01-08 16:55:31 +01:00 (CET) Date last edited N/A

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