Global Variome shared LOVD

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Phenotype #0000233411 Individual ID 00307989 Associated disease ? Diagnosis/Initial spondylocarpotarsal synostosis syndrome Diagnosis/Definite - Phenotype details see paper; ..., vertebral fusion thoracic, vertebral fusion lumbar; dysmorphism; short neck; scoliosis; webbing neck; contractures elbows, contractures knees, contractures hips; absent finger flexion creases Inheritance Unknown 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 2020-08-25 09:42:04 +02:00 (CEST) Date last edited N/A

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