Global Variome shared LOVD

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Phenotype #0000059712 Individual ID 00080137 Associated disease ACRDYS1 Phenotype details PTH resistance, TSH resistance, short stature, brachydactily, mental retardation, cone-shaped epiphyses, short neck, cafè-au-lait spots Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis 15y Age/Onset - Phenotype/Onset fmelli Growth - Protein - Owner name Francesca Marta Elli Database submission license No license selected Created by Francesca Marta Elli Date created 2016-09-02 08:48:24 +02:00 (CEST) Date last edited 2016-09-02 09:46:42 +02:00 (CEST)

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