Global Variome shared LOVD

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Phenotype #0000015393 Individual ID 00016925 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, X-linked recessive Phenotype details severe intellectual disability, secondary microcephaly, muscular hypotonia, epilepsy, strabismus, short nasal septum, agenesis gallbladder, 3y5m-deceased of respiratory infection; younger brother primary microcephaly, micropenis, cryptorchidism, severely delayed psychomotor development, gallbladder agenesis Age/Examination 03y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Tzschach Database submission license No license selected Created by Johan den Dunnen Date created 2014-06-11 09:07:33 +02:00 (CEST) Date last edited 2021-12-02 10:55:37 +01:00 (CET)

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