Global Variome shared LOVD

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Phenotype #0000233400 Individual ID 00307977 Associated disease ID Diagnosis/Initial intellectual diability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., Global developmental delay, Neonatal respiratory distress, Seizures, Microcephaly, Spasticity, Central hypotonia, Failure to thrive, Brain atrophy Age/Examination 6m 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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