Phenotype #0000127236

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00154500
Associated disease	RTS2
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	RTS
Age/Examination	-
Diagnosis/Definite	RTS
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Phenotype details	Poikiloderma, hyperkeratosis on palms and joints, dental defects, recurrent middle ear infections, IgA deficiency, knee arthritis
Protein	-
Owner name	Elisa Adele Colombo
Database submission license	No license selected
Created by	Elisa Adele Colombo
Date created	2018-03-01 12:16:03 +01:00 (CET)
Date last edited	2018-03-02 10:29:23 +01:00 (CET)

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