Global Variome shared LOVD

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Phenotype #0000269440 Individual ID 00374230 Associated disease ? Diagnosis/Initial muscular dystrophy Diagnosis/Definite - Phenotype details Difficulty getting up from the floor and climbing stairs, waddling gait, mild pseudo-hypertrophy of calf muscle, hypertelorism, low set ears, and prominent cheeks. Muscle biopsy was indicative of muscular dystrophy Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-05-24 20:06:48 +02:00 (CEST) Date last edited N/A

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