Phenotype #0000155100

Individual ID 00207306
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 infantile systemic hyalinosis
Inheritance Familial, autosomal recessive
Diagnosis/Definite HFS
Age/Examination -
Age/Diagnosis 02y
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Shixu Yan
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2013-02-27 16:50:48 +01:00 (CET)
Date last edited 2018-11-19 20:16:09 +01:00 (CET)

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