Phenotype #0000072633

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00094241
Associated disease	SPG31
Phenotype details	hypotelorism, strabismus, broad nasal bridge, blubous tip nose, everted upper lip, broad short neck, speech delay, ataxia, hyperlaxity, motor and fine-motor disabilities
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	9y (9 years)
Age/Diagnosis	-
Age/Onset	3y
Phenotype/Onset	-
Protein	-
Owner name	Christian Beetz
Database submission license	No license selected
Created by	Christian Beetz
Date created	2016-12-15 14:31:34 +01:00 (CET)
Date last edited	N/A

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