Phenotype #0000078486

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00100263
Associated disease	SIHIWES
Phenotype details	see paper; ..., Intellectual disability, hearing loss, macrocephaly, bifid uvula, hypogonadotrophic hypogonadism, congenital stroke with moya moya disease
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Birth_Details	-
Protein	-
Owner name	Karin Weiss
Database submission license	No license selected
Created by	Karin Weiss
Date created	2017-02-09 19:38:46 +01:00 (CET)
Date last edited	2017-02-10 12:29:10 +01:00 (CET)

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