Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000053542 Individual ID 00017809 Associated disease JBTS Phenotype details tachypnea or apnea, ptosis, oculomotor apraxia Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 09y (9 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2016-06-19 22:33:44 +02:00 (CEST) Date last edited N/A

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