Global Variome shared LOVD

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Phenotype #0000203965 Individual ID 00266188 Associated disease NDD Diagnosis/Initial intellectual disability Diagnosis/Definite - Phenotype details short stature (119cm), head circumference 49cm (25th percentile); severe intellectual disability, developmental delay; speech few words; delayed motor milestones; (early on-set) epilepsy; hypotonia; behaviour inattention and hyperactivity; MRI normal; unsteady gait Inheritance Familial, autosomal recessive Age/Examination 6y (6 years) 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 2019-10-16 03:19:26 +02:00 (CEST) Date last edited N/A

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