Global Variome shared LOVD

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Phenotype #0000230655 Individual ID 00303592 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite IDDSADF Phenotype details birth 32w, weight 1900g; CS; height 0.4-2 centile, weight 0.4 centile, OFC 25-50 centile; walk-30m; fine and gross motor delay; no hypotonia; speech no language; severe learning difficulties, autism, behavioural steriotypies; nystagmus; Malar hypoplasia, prognathism, doliocephaly; MRI brain 4y-thin corpus callosum; pyelocalyceal hypotonia; scoliosis, 12y-persistent primary dentition, frequent infections, 4y-seizures Inheritance Isolated (sporadic) Age/Examination 12y (12 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 2020-06-16 23:30:21 +02:00 (CEST) Date last edited N/A

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