Phenotype #0000278756

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00384974
Associated disease	NDD
Diagnosis/Initial	hereditary spastic paraplegia
Diagnosis/Definite	-
Phenotype details	intellectual disability, global developmental delay; no upper limb spasticity; no joint contractures; no seizures; thin corpus callosum; white matter anomalies; autism spectrum disorder, self-injurious behavior
Inheritance	Familial, autosomal recessive
Age/Examination	5y (5 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-10-06 08:14:41 +02:00 (CEST)
Date last edited	N/A

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