Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000234966 Individual ID 00309653 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details developmental delay, hypotonia/spasticity, mild intellectual disability, seizures, bilateral hand tremor and ataxia, mildly elevated lactate, elevated CSF total protein, and slurred speech; MRI brain bilateral deep white matter Inheritance Familial, autosomal recessive Age/Examination 11y (11 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 2020-08-31 09:10:39 +02:00 (CEST) Date last edited N/A

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