Global Variome shared LOVD

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Phenotype #0000233371 Individual ID 00307948 Associated disease ID Diagnosis/Initial intellectual diability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., Profound global developmental delay, Strabismus, Blindness, Seizures, Dysphagia, Developmental regression, Recurrent respiratory infections, Microcephaly, Hypotonia, Hypsarrhythmia, Abnormal thalamic size Age/Examination 1y (1 year) 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 2020-08-23 13:31:08 +02:00 (CEST) Date last edited N/A

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