Global Variome shared LOVD

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Phenotype #0000099037 Individual ID 00126805 Associated disease hCK Phenotype details uutism, also mutation-proven VHL; elevated serum CPK (HP:0003236) 4443; no motor delay (-HP:0001270) Diagnosis/Initial hyperCKemia Inheritance Familial, autosomal dominant Diagnosis/Definite BMD Age/Examination - Age/Diagnosis - Age/Onset 5y Phenotype/Onset - Protein - Owner name Brian Kirmse Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2013-11-12 17:44:43 +01:00 (CET) Date last edited 2013-11-22 16:49:29 +01:00 (CET)

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