Global Variome shared LOVD

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Phenotype #0000172993 Individual ID 00229787 Associated disease EIEE Phenotype details does not walk; speaks few short words; comprehension severely limited; no regression; severe DD or ID; 2m-onset seizures; no MRI anomalies; truncal hypotonia; hypertonia lower limbs; paroxysmal movement disorder; no stereotypies; limited interaction, easy smiling and laughing; face Pitt-Hopkins-like; 6-7m-transient strabismus, mild constipation Diagnosis/Initial early infantil epileptic encephalopathy Inheritance Isolated (sporadic) Diagnosis/Definite EIEE-64 Age/Examination 8y4m (8 years, 4 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Intellectual_dis - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-04-10 22:37:14 +02:00 (CEST) Date last edited N/A

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