Global Variome shared LOVD

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Phenotype #0000353181 Individual ID 00468029 Associated disease ? Diagnosis/Initial ataxic gait Diagnosis/Definite NCFTD Phenotype details see paper; ..., ataxia; no dysmetria; no oculomotor apraxia; intention tremor; developmental delay; intellectual disability; slurred speech, three-word sentences; mild hypotonia; no pyramidal sign; no extrapyramidal sign; epileptic seizure;  ; MRI cerebellar atrophy/hypoplasia, no brainstem atrophy, calcification at basal ganglia and subcortical white matter Inheritance Familial, autosomal recessive Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset 2y Phenotype/Onset ataxic gait 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 2025-11-07 09:37:50 +01:00 (CET) Date last edited N/A

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