Global Variome shared LOVD

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

Phenotype #0000300419 Individual ID 00408292 Associated disease EBSB1 Phenotype details Cutaneous: hemorrhagic blistering Oropharyngeal: hoarseness Respiratory: recurrent pulmonary infection Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Nailah Harvey Database submission license No license selected Created by Nailah Harvey Date created 2022-04-19 21:54:09 +02:00 (CEST) Date last edited 2022-04-20 11:15:22 +02:00 (CEST)

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