Global Variome shared LOVD

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

Phenotype #0000069483 Individual ID 00090110 Associated disease PN Phenotype details cutaneous rash since age 5 m; neutropenia; transient thrombocytopenia; pachyonychia; chronic cough; history of diarrhea; normal bone marrow studies. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 00y09m Age/Onset 00y05m Phenotype/Onset - Protein - Owner name Elisa Adele Colombo Database submission license No license selected Created by Elisa Adele Colombo Date created 2016-12-05 16:46:39 +01:00 (CET) Date last edited N/A

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