Global Variome shared LOVD

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Phenotype #0000351849 Individual ID 00466486 Associated disease MYOP Phenotype details see paper; ..., developmental delay, intellectual disability, ataxia, dysmorphia (dolichocephaly, arachnodactyly, clinodactyly, hypertelorism, wide nasal bridge), myopathy (ptosis, double vision, strabismus, distal limb weakness, diffuse wasting, hypotonia), hyperextensible joints, hyperkyphosis Diagnosis/Initial myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite MPXPS Age/Examination 23y (23 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - 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 14:50:45 +02:00 (CEST) Date last edited N/A

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