Global Variome shared LOVD

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Phenotype #0000268908 Individual ID 00373634 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details speech 20 words; age walking normal; moderate intellectual disability; childhood hypotonia; seizures; absent corpus callosum; no blindness Age/Examination 5y2m (5 years, 2 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-05-17 13:51:11 +02:00 (CEST) Date last edited N/A

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