Global Variome shared LOVD

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Phenotype #0000351839 Individual ID 00466476 Associated disease NMD Diagnosis/Initial neuromuscular disorder Diagnosis/Definite MPXPS Phenotype details see paper; ..., feeding difficulties, delayed developmen; walk on toes, right leg weakening progressively, CK level elevated (2,070,070 U/L); lower limbs weakness one side, tremors, clinodactyly, episodes of stiffness, autism-ADHD symptoms Inheritance Familial, autosomal recessive Age/Examination 7y (7 years) Age/Diagnosis - Age/Onset - 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 13:09:59 +02:00 (CEST) Date last edited N/A

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