Phenotype #0000155329

Individual ID 00207554
Associated disease HLD
Diagnosis/Initial tremor-ataxia with central hypomyelination (TACH)
Diagnosis/Definite HLD-7
Phenotype details developmental delay; cognitive regression; seizures; optic atrophy; gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; dysphagia; hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 8y wheelchair bound; hypodontia; no hypogonadotropic hypogonadism;
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset 1y
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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