Global Variome shared LOVD

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

Phenotype #0000155102 Individual ID 00207308 Associated disease HFS Phenotype details painful contractions in infancy, skin eruptions, gingival hypertrophy, failure to thrive, short stature, no intractable recurrent diarrhoea, no systemic inflammatory reaction, no recurrent infections Diagnosis/Initial juvenile hyaline fibromatosis Inheritance Familial, autosomal recessive Diagnosis/Definite HFS Age/Examination - Age/Diagnosis 14y Age/Onset - Phenotype/Onset - Protein - Owner name Shixu Yan Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2013-02-27 16:52:10 +01:00 (CET) Date last edited 2018-11-19 20:04:42 +01:00 (CET)

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