Global Variome shared LOVD

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Phenotype #0000037199 Individual ID 00050587 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details severe short stature, global developmental delay, specific learning disability, abnormal facial shape, generalized hypotonia due to defect at the neuromuscular junction, attention deficit hyperactivity disorder, aggressive behavior, myopia, increased body weight, cafe-au-lait spot, fifth toe clinodactyly, joint hypermobility, large for gestational age, autism Inheritance Isolated (sporadic) 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 2015-09-27 16:16:40 +02:00 (CEST) Date last edited N/A

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