Global Variome shared LOVD

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

Phenotype #0000313537 Individual ID 00422333 Associated disease BMD/DMD Diagnosis/Initial BMD/DMD Diagnosis/Definite DMD Phenotype details no intelectual disability (IQ 71); non ambulatory; no pseudohypertrophy; negative Gowers' sign; serum CK 5793 (U/L); family history Inheritance Familial, X-linked recessive Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset 6y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-11-09 15:22:29 +01:00 (CET) Date last edited 2022-11-09 15:27:33 +01:00 (CET)

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