Global Variome shared LOVD

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Phenotype #0000339498 Individual ID 00450438 Associated disease SPG Phenotype details see paper; ..., global developmental delay with mild intellectual disability, some signs of hypotonia and progressive peripheral spasticity Diagnosis/Initial spastic paraplegia Inheritance Familial, autosomal recessive Diagnosis/Definite SPG89 Age/Examination 10y3m (10 years, 3 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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