Global Variome shared LOVD

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Phenotype #0000318991 Individual ID 00428045 Associated disease EDSSPD Diagnosis/Initial Guiffre-Tsukahara syndrome Diagnosis/Definite - Phenotype details Prominent craniofacial abnormalities, joint hypermobility, scoliosis, fifth-finger clinodactyly, restricted elbow movement, soft/doughy skin Inheritance Familial, autosomal dominant Age/Examination 14 Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Oumaima Nehaili Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Oumaima Nehaili Date created 2022-12-19 21:56:04 +01:00 (CET) Date last edited 2024-10-17 14:05:07 +02:00 (CEST)

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