Global Variome shared LOVD

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Phenotype #0000017776 Individual ID 00020017 Associated disease HTX5 Phenotype details US showed abdominal situs inversus. Echocardiogram demonstrated levocardia with interrupted inferior vena cava, all of which were consistent with HS. Brain CT scan was normal, excluding hydrocephalus and her growth and development, followed till seven years of age. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 06y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Asaf Ta-Shma Database submission license No license selected Created by Asaf Ta-Shma Date created 2014-10-01 16:34:29 +02:00 (CEST) Date last edited 2014-10-01 21:26:40 +02:00 (CEST)

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