Global Variome shared LOVD

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Phenotype #0000172982 Individual ID 00229775 Associated disease MC1DN Phenotype details linear skin defect; MRI-brain corpus callosum agenesis, dilated lateral ventricles; epilepsy; severe global developmental delay; myopia, nystagmus, strabismus; failure to thrive; no anemia; no lactic acidosis; dilated cardiomyopathy Diagnosis/Initial MC1DN Inheritance Familial, X-linked recessive Diagnosis/Definite - Age/Examination 4y6m (4 years, 6 months) 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 2019-04-09 21:34:13 +02:00 (CEST) Date last edited N/A

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