Global Variome shared LOVD

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Phenotype #0000292520 Individual ID 00399409 Associated disease MDC Phenotype details born with mild hypotonia; severe developmental delay, optic nerve atrophy; serum creatine kinase 5582; MRI brainperiventricular white matter loss, ventriculomegaly, athin corpus callosum; muscle biopsy severe non-specific dystrophic changes Diagnosis/Initial muscular dystrophy Diagnosis/Definite - Inheritance Familial, autosomal recessive Age/Examination 00y08m14d (8 months, 14 days) 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 2022-01-20 16:29:41 +01:00 (CET) Date last edited N/A

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