Phenotype #0000155104

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00207310
Associated disease	HFS
Phenotype details	painful contractions in infancy, skin eruptions, gingival hypertrophy, failure to thrive, short stature, 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	03y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Shixu Yan
Database submission license
Created by	Johan den Dunnen
Date created	2013-02-27 16:42:08 +01:00 (CET)
Date last edited	2018-11-19 19:47:50 +01:00 (CET)

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