Global Variome shared LOVD

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Phenotype #0000088153 Individual ID 00112671 Associated disease PTHS Phenotype details severe mental retardation, absent speech, pronounced muscular hypotonia, ataxia, distinctive facial features (coarse face, broad nasal bridge, wide mouth), hyperventilation attacks Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - 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 2008-05-22 00:15:32 +02:00 (CEST) Date last edited 2011-08-02 13:51:38 +02:00 (CEST)

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