Phenotype #0000045421

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00058832
Associated disease	JBTS
Phenotype details	He presented with a neurological phenotype consisting of hypotonia, developmental delay and cognitive impairment. There was no involvement of other organs such as the retina, kidneys, liver and skeleton.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Enza Maria Valente
Database submission license	No license selected
Created by	Enza Maria Valente
Date created	2016-02-08 12:09:01 +01:00 (CET)
Date last edited	2016-02-12 02:04:49 +01:00 (CET)

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