Global Variome shared LOVD

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Phenotype #0000209287 Individual ID 00274344 Associated disease ? Diagnosis/Initial intellectual disability Diagnosis/Definite MRT57 Phenotype details head control-8m, sit-1y6m, walk-2y; first words-4y, two word sentence-5y ; onset seizures-4m, focal seizures; child autism rating scale 42; head circumference -2.5SD; hypotonia infancy; hypertonia; intellectual disability; MRI brain normal Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-12-29 15:57:46 +01:00 (CET) Date last edited N/A

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