Global Variome shared LOVD

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Phenotype #0000238642 Individual ID 00314884 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Progressive microcephaly, profound intellectual disability, severe chorea (low axial, high appendicular), flexor non-epileptic spasms, small ventral septal defect, gastroesophageal reflux, hypospadias, changing tonus, strabismus, hyperactive deep tendon reflex. Inheritance Isolated (sporadic) Age/Examination 6y (6 years) Age/Diagnosis - Age/Onset 6m 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 2020-10-20 15:09:17 +02:00 (CEST) Date last edited N/A

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