Global Variome shared LOVD

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Phenotype #0000357429 Individual ID 00472633 Associated disease ? Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., no developmental delay; 4y-gait ataxia; 10y-wheelchair used, 12y-wheelchair bound; saccadic slowing, oculomotor apraxia, saccadic pursuit before blindness; spastic paraplegia, hyperreflexia, extensor plantar response; mild intellectual disability (IQ74); no epilepsy; blindness due to optic atrophy, strabismus; short stature (151cm); dropped head syndrome; MRI brain progressive cerebellar atrophy, cerebral atrophy of mesencephalon/medulla oblongata/posterior callosal body; nerve conduction studies normal Inheritance Familial, autosomal recessive Age/Examination 21y (21 years) Age/Diagnosis - Age/Onset - 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 2026-02-24 15:02:48 +01:00 (CET) Date last edited N/A

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