Global Variome shared LOVD

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Phenotype #0000278754 Individual ID 00384972 Associated disease NDD Diagnosis/Initial hereditary spastic paraplegia Diagnosis/Definite - Phenotype details intellectual disability, global developmental delay; upper limb spasticity; joint contractures; no seizures; thin corpus callosum; white matter anomalies; no behavioral anomalies Inheritance Familial, autosomal recessive Age/Examination 21y (21 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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