Global Variome shared LOVD

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Phenotype #0000352767 Individual ID 00301411 Associated disease EPM Phenotype details see paper; ..., moderate; no hoarseness of voice; no joint pain, no joint contractures; no subcutaneous nodules; no pulmonary disease, no cardiac disease; no organomegaly; fundus bilateral optic atrophy; developmental delay, seizures Diagnosis/Initial progressive myoclonic epilepsy Inheritance Familial, autosomal recessive Diagnosis/Definite SMAPME Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution 4.0 International Created by Johan den Dunnen Date created 2025-10-22 08:53:24 +02:00 (CEST) Date last edited 2025-10-22 09:38:43 +02:00 (CEST)

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