Global Variome shared LOVD

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Phenotype #0000157652 Individual ID 00209046 Associated disease MR;ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRT-19 Phenotype details profound ID, spasticity, axial hypotonia, choreoathetosis, seizures screaming spells; EEG disorganized slow background, bilateral frontal epileptiform abnormalities; MRI-brain pontine hypoplasia, thin corpus callosum, temporal lobe hypomyelination Inheritance Familial, autosomal recessive Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset - 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 2018-12-22 17:55:08 +01:00 (CET) Date last edited N/A

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