Global Variome shared LOVD

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Phenotype #0000351859 Individual ID 00466496 Associated disease NMD Diagnosis/Initial muscle weakness Diagnosis/Definite MPXPS Phenotype details see paper; ..., developmental delay; elevated liver transaminases; elevated CK level; normal growth; height 25–50th %ile; weight 25–50th %ile; 25–50th %ile; hypotonia; abnormal gait; no ventricular septal defect; learning disability; no extrapyrimidal signs; positive Gower sign; two similarly affected brothers/one similarly affected sister (2y-deceased) Inheritance Familial, autosomal recessive Age/Examination 06y-14y Age/Diagnosis - Age/Onset 06y-14y Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-09-08 19:30:15 +02:00 (CEST) Date last edited N/A

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