Global Variome shared LOVD

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

Phenotype #0000210855 Individual ID 00276265 Associated disease DMD Phenotype details Difficulty climbing stairs (HP:0003551), Difficulty walking (HP:0002355), Gowers sign (HP:0003391), Calf muscle hypertrophy (HP:0008981), Proximal muscle weakness (HP:0003701), Waddling gait (HP:0002515), Delayed fine motor development (HP:0010862), Toe walking (HP:0040083), Frequent falls (HP:0002359) Diagnosis/Initial DMD Inheritance Familial, X-linked recessive Diagnosis/Definite DMD Age/Examination 15y (15 years) Age/Onset 07y Phenotype/Onset Frequent falls (HP:0002359) Age/Diagnosis - Protein - Owner name Lakshmi Bremadesam Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Lakshmi Bremadesam Date created 2020-01-29 08:23:46 +01:00 (CET) Date last edited 2020-02-02 15:40:09 +01:00 (CET)

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