Global Variome shared LOVD

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Phenotype #0000278756 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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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