Global Variome shared LOVD

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Phenotype #0000339502 Individual ID 00450442 Associated disease SPG Phenotype details see paper; ..., spastic paraplegia leading to permanent and severe movement disability in lower limbs; requiring extensive physiotherapy; learning problems; IQ test intellectual age 4.5y at 5.5y, IQ79 Diagnosis/Initial spastic paraplegia Inheritance Familial, autosomal recessive Diagnosis/Definite SPG89 Age/Examination 24y (24 years) 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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