Global Variome shared LOVD

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Phenotype #0000351858 Individual ID 00466495 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 25th %ile; weight 505th %ile; hypotonia; abnormal gait; frequent falls; no ventricular septal defect; no extrapyrimidal signs Inheritance Familial, autosomal recessive Age/Examination 4y (4 years) Age/Diagnosis - Age/Onset 4y 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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