Global Variome shared LOVD

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Phenotype #0000243367 Individual ID 00324871 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., birth 37,1w, weight -2.3SD, length -1.18SD, OFC -1.71SD; weight -2.33SD, length -2.77SD, OFC -1SD; intellectual disability/developemental delay; no seizures; motor delay; 18m-walk; speech delay; autistic behaviour; stereotypies; hyperactivity; aggressiveness; feeding difficulties; sleeping disturbance; wide mouth, high; MRI corpus callosum hypoplasia, bilateral hippocampal dysplasia Inheritance Isolated (sporadic) Age/Examination 08y (8 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 2020-12-24 15:03:09 +01:00 (CET) Date last edited 2022-09-30 19:34:45 +02:00 (CEST)

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