Phenotype #0000125546

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00152608
Associated disease	BHC
Phenotype details	hypotonia and motor delay; a hyperkinetic movement disorder noted since infancy and recurrent pulmonary infections
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Daniele Ghezzi
Database submission license
Created by	Daniele Ghezzi
Date created	2018-02-05 16:36:20 +01:00 (CET)
Date last edited	2019-03-01 23:30:29 +01:00 (CET)

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