Global Variome shared LOVD

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Phenotype #0000106835 Individual ID 00134082 Associated disease MMDD Phenotype details global developmental delay, muscular hypotonia, joint contractures (leg), no speech, hydrocephalus, cryptochism, CK elevation (2500 U/l) Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 08y (8 years) Age/Diagnosis 07y Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2017-11-24 15:25:22 +01:00 (CET) Date last edited 2018-04-05 13:23:32 +02:00 (CEST)

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