Global Variome shared LOVD

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

Phenotype #0000060340 Individual ID 00080761 Associated disease ACRDYS2 Phenotype details PTH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, DMT1, recurrent otitis media, lack of puberal growth spurt Diagnosis/Initial - Inheritance - Diagnosis/Definite - Age/Examination - Age/Diagnosis 14.7y Age/Onset - Phenotype/Onset - Protein - Owner name Francesca Marta Elli Database submission license No license selected Created by Francesca Marta Elli Date created 2016-09-12 09:34:23 +02:00 (CEST) Date last edited N/A

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