Global Variome shared LOVD

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Phenotype #0000333170 Individual ID 00443906 Associated disease ? Diagnosis/Initial spastic cerebral palsy Diagnosis/Definite NEDSWMA Phenotype details see paper; ..., full-term normal delivery; severe learning disability; no epilepsy; predominantly lower limbs affected; upper limb ataxia; increased lower limb reflexes/tone; equivocal plantar response; thoracolumbar scoliosis; fixed flexion deformities both knees, extension at hips; distal muscle wasting lower limbs; 2y6m-crawl, became wheelchair dependent Inheritance Familial, autosomal recessive Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset 6m Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-12-06 12:32:04 +01:00 (CET) Date last edited N/A

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