Global Variome shared LOVD

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

Phenotype #0000045233 Individual ID 00058642 Associated disease AAS;MRX16 Phenotype details short stature (121cm o5th percentile), joint hypermobility, small and short hands and feet, brachydactyly and camptodactyly Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination 9y (9 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Emmelien Aten Database submission license No license selected Created by Emmelien Aten Date created 2010-02-16 16:36:14 +01:00 (CET) Date last edited N/A

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