Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000318989 Individual ID 00428043 Associated disease EDSSPD Diagnosis/Initial Guiffre-Tsukahara syndrome Diagnosis/Definite - Phenotype details Craniofacial abnormalities, scoliosis, restricted elbow movement Inheritance Familial, autosomal dominant Age/Examination 41 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 21:41:44 +01:00 (CET) Date last edited 2024-10-17 14:02:57 +02:00 (CEST)

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