Global Variome shared LOVD

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Phenotype #0000351860 Individual ID 00466497 Associated disease NMD Diagnosis/Initial muscle weakness Diagnosis/Definite MPXPS Phenotype details see paper; ..., developmental delay; speech delay; elevated liver transaminases; elevated CK level; normal growth; height 50th %ile; weight 50th %ile; OFC 50th %ile; no hypotonia; no hepatomegaly; normal gait; no frequent falls; no ventricular septal defect; learning disability; no extrapyrimidal signs; seizures; hyperactivity Inheritance Familial, autosomal recessive Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset 10y 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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