Global Variome shared LOVD

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Phenotype #0000017693 Individual ID 00019920 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details Developmental delay, absent speech, EEG anomalies, hypotonia, esotropia, hypertrichosis Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Giuseppe Marangi Database submission license No license selected Created by Giuseppe Marangi Date created 2014-09-18 18:00:38 +02:00 (CEST) Date last edited 2014-09-21 11:11:52 +02:00 (CEST)

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