Global Variome shared LOVD

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Phenotype #0000043165 Individual ID 00056477 Associated disease MDC Phenotype details dystrophy, muscular congenital (CMD), cerebellar involvement; decreased fetal movement; severe intellectual delay; drug-resistant epilepsy; motor delay; strabismus; no cardiorespiratory findings; brain MRI cerebellar hypoplasia; CPK 630 max U/l; max motor ability unable to sit Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset 4m Phenotype/Onset poor head control Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2013-07-23 22:58:32 +02:00 (CEST) Date last edited N/A

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