Phenotype #0000073513

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00095118
Associated disease	SPG54
Phenotype details	Signs at onset: tip-toe walking, Disability stage: can walk unsupported, Skeletal deformities: laterally deviated feet, Mild-moderate intellectual disability
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	01y06m
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2016-09-26 11:36:30 +02:00 (CEST)
Date last edited	2017-01-06 13:28:16 +01:00 (CET)

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