Global Variome shared LOVD

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Phenotype #0000321937 Individual ID 00431337 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., microcephaly; height -1SD; 4y-facial telangiectasia; moderate developmental delay; 10m-sit; 20m-walk; first words delayed, simple conversational speech; school specialized; moderate intellectual disability; no dysmorphism; infancy-hypotonia; no spasticity/hypertonia; hyperkinetic choreiform movements, ataxic gait; no seizures; normal reproductive organs; bilateral esotropia Inheritance Familial, autosomal recessive Age/Examination 7y9m (7 years, 9 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-02-09 10:08:23 +01:00 (CET) Date last edited N/A

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