Global Variome shared LOVD

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Phenotype #0000339497 Individual ID 00450437 Associated disease SPG Phenotype details see paper; ..., global developmental delay with mild intellectual disability and progressive peripheral spasticity Diagnosis/Initial spastic paraplegia Inheritance Familial, autosomal recessive Diagnosis/Definite SPG89 Age/Examination 17y7m (17 years, 7 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-05-27 09:25:31 +02:00 (CEST) Date last edited N/A

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