Phenotype #0000093235

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00117847
Associated disease	EVMPS
Phenotype details	multiple pterygium syndrome, Escobar variant; EVMPS
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	12y (12 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Selma Demir Ulusal
Database submission license	No license selected
Created by	Selma Demir Ulusal
Date created	2017-03-01 21:23:20 +01:00 (CET)
Date last edited	2017-09-04 10:09:35 +02:00 (CEST)

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