Global Variome shared LOVD

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Phenotype #0000155331 Individual ID 00207556 Associated disease HLD Diagnosis/Initial tremor-ataxia with central hypomyelination (TACH) Diagnosis/Definite HLD-7 Phenotype details no developmental delay; cognitive regression; no seizures; optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; no vertical gaze limitation; dysphagia; hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 8y wheelchair bound; no hypodontia; no hypogonadotropic hypogonadism; no nerve biopsy Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 3y 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 2018-11-24 00:59:31 +01:00 (CET) Date last edited N/A

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