Phenotype #0000000846

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00001692
Associated disease	HSD10MD
Inheritance	Familial
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Onset	-
Phenotype/Onset	-
Phenotype details	ascertainment clinical presentation; psychomotor retardation, speech delay, hearing loss; phenotype onset first months of life; biochemical phenotype typical for disease
Enzyme/Activity	-
Protein	-
Age/Diagnosis	-
Owner name	Division of Human Genetics, Innsbruck
Database submission license
Created by	Division of Human Genetics, Innsbruck
Date created	2010-04-26 17:42:40 +02:00 (CEST)
Date last edited	2010-05-02 14:51:31 +02:00 (CEST)

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