Global Variome shared LOVD

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Phenotype #0000318988 Individual ID 00428042 Associated disease EDSSPD Diagnosis/Initial Guiffre-Tsukahara syndrome Diagnosis/Definite - Phenotype details Craniofacial abnormalities, scoliosis, fifth-finger clinodactyly, restricted elbow movement, radioulnar synostosis, aclasis of right humerus and ulna Inheritance Familial, autosomal dominant Age/Examination 67 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 21:16:04 +01:00 (CET) Date last edited 2023-02-07 11:30:36 +01:00 (CET)

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