Global Variome shared LOVD

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Phenotype #0000352928 Individual ID 00467775 Associated disease NDD Diagnosis/Initial neurodevelopmental disorders Diagnosis/Definite - Phenotype details see paper; ..., moderate development delay; independent walking; no regression; no neonatal hypotonia; spastic paraplegia, muscle weakness, hyperreflexia; no epilepsy; no dysmorphism; moderate intellectual disability; normal behavior; scoliosis; convergent strabismus Inheritance Familial, autosomal recessive Age/Examination 27y (27 years) Age/Diagnosis - Age/Onset 2y 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 2025-10-29 21:40:34 +01:00 (CET) Date last edited N/A

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