Global Variome shared LOVD

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Phenotype #0000352917 Individual ID 00467764 Associated disease NDD Diagnosis/Initial neurodevelopmental disorders Diagnosis/Definite - Phenotype details see paper; ..., mild development delay; 18m-walk; no regression; no neonatal hypotonia; spastic paraplegia; epilepsy; dysmorphism (long face, long philtrum, thin upper lip, prominent forehead, hypotelorism, single median maxillary incisor); moderate intellectual disability; autistic traits, depressive disorder; strabismus (operated), scoliosis Inheritance Familial, autosomal recessive Age/Examination 57y (57 years) Age/Diagnosis - Age/Onset 1d 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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