Global Variome shared LOVD

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Phenotype #0000347948 Individual ID 00460220 Associated disease MDC Phenotype details see paper; ..., premature delivery, severe neonatal asphyxia, suspected neonatal brain injury and tracheal malformation; multiple joint deformity; left humeral fractures Diagnosis/Initial congenital muscular dystrophy/myopathy Diagnosis/Definite NEM8 Inheritance Familial, autosomal recessive Age/Examination 3d 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 2025-01-21 21:16:51 +01:00 (CET) Date last edited N/A

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