Global Variome shared LOVD

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Phenotype #0000233416 Individual ID 00307994 Associated disease ? Diagnosis/Initial spondylocarpotarsal synostosis syndrome Diagnosis/Definite - Phenotype details see paper; ..., vertebral fusion thoracic; carpal-tarsal fusion; scoliosis; webbing neck (2/4), webbing elbows (1/4), webbing knees (1/4) 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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