Global Variome shared LOVD

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

Phenotype #0000155106 Individual ID 00207312 Associated disease HFS Phenotype details painful contractions in infancy, skin eruptions, gingival hypertrophy, failure to thrive, short stature, intractable recurrent diarrhoea, systemic inflammatory reaction, recurrent infections Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite HFS Age/Examination - Age/Diagnosis 00y00m42d Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-11-19 20:22:06 +01:00 (CET) Date last edited N/A

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