Phenotype #0000088153

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00112671
Associated disease	PTHS
Phenotype details	severe mental retardation, absent speech, pronounced muscular hypotonia, ataxia, distinctive facial features (coarse face, broad nasal bridge, wide mouth), hyperventilation attacks
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2008-05-22 00:15:32 +02:00 (CEST)
Date last edited	2011-08-02 13:51:38 +02:00 (CEST)

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