Global Variome shared LOVD

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Phenotype #0000082484 Individual ID 00104570 Associated disease NDHMSD Phenotype details severe intellectual disability, motor developmental delay, growth retardation, microcephaly, heart defect, hypotonia Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 09y (9 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - Protein - Owner name Jana Paderova Database submission license No license selected Created by Jana Paderova Date created 2017-05-16 16:53:38 +02:00 (CEST) Date last edited 2017-05-16 18:25:22 +02:00 (CEST)

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