Global Variome shared LOVD

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Phenotype #0000358337 Individual ID 00473542 Associated disease MD Phenotype details Seizures; No walk; Mental retardation; Strabismus; Hypertelorism; Down slanted palpebral fissures; Low set ears; Posterior rotated ears; Hyperextensible distal joints, fingers>toes; No walk; Central hypotonia. Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 4y (4 years) Age/Diagnosis - Age/Onset - 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 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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