Global Variome shared LOVD

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Phenotype #0000059730 Individual ID 00080165 Associated disease ACRDYS1 Phenotype details PTH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis 34y Age/Onset - Phenotype/Onset - Growth - Protein - Owner name Francesca Marta Elli Database submission license No license selected Created by Francesca Marta Elli Date created 2016-09-02 14:26:08 +02:00 (CEST) Date last edited N/A

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