Global Variome shared LOVD

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Phenotype #0000355179 Individual ID 00470034 Associated disease SPG Phenotype details see paper; ..., syndromic; bilateral cataract; diffuse brain haemorrhage, hydrocephalus, axial hypotonia, hypertonic limbs, drug-resistant epilepsy, intellectual disability/developmental delay Diagnosis/Initial bilateral cataract Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 4y2m (4 years, 2 months) Age/Diagnosis - Age/Onset 1d 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 2025-11-25 19:19:02 +01:00 (CET) Date last edited N/A

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