Phenotype #0000311280

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00420044
Associated disease	WRN
Phenotype details	see paper; ..., unilateral cataract; no skin anomalies; no facial features; no short stature; greying or loss of hair; diabetes mellitus; soft tissue calcification; neoplasms; voice change; flat feet
Diagnosis/Initial	Werner syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	WRN
Age/Examination	68y (68 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-10-30 16:51:29 +01:00 (CET)
Date last edited	2022-10-31 09:48:12 +01:00 (CET)

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