Phenotype #0000036646

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00049866
Associated disease	RTS2
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	-
Age/Examination	08y (8 years)
Diagnosis/Definite	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Phenotype details	poikiloderme, erythema, telangiectatic lesions, hyperkeratosis, alopecia, short stature, impaired neurocognitive development, chronic diarrhoea
Protein	-
Owner name	Sabina Gallati, Prof.
Database submission license	No license selected
Created by	Sabina Gallati, Prof.
Date created	2015-09-13 16:10:45 +02:00 (CEST)
Date last edited	2016-01-26 02:58:19 +01:00 (CET)

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