Global Variome shared LOVD

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Phenotype #0000353180 Individual ID 00468028 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/spastic lower limbs; pyramidal sign; no extrapyramidal sign; no peripheral neuropathy; epileptic seizure; low IgG; MRI cerebellar atrophy/hypoplasia, mild brainstem atrophy, cerebral white matter atrophy, calcification at subcortical white matter Inheritance Familial, autosomal recessive Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset 1y 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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