Global Variome shared LOVD

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Phenotype #0000352780 Individual ID 00467570 Associated disease SMA Phenotype details see paper; ..., mild; no hoarseness of voice; no joint pain, no joint contractures; no subcutaneous nodules; no pulmonary disease, no cardiac disease; no organomegaly; normal fundus; developmental delay, seizures Diagnosis/Initial spinal muscle atrophy with progressive myoclonic epilepsy Inheritance Familial, autosomal recessive Diagnosis/Definite SMAPME Age/Examination - Age/Diagnosis 18m Age/Onset 15m Phenotype/Onset - Protein - Owner name Mohamed A. Elmonem Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-10-22 09:49:32 +02:00 (CEST) Date last edited N/A

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