Global Variome shared LOVD

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Phenotype #0000210224 Individual ID 00275613 Associated disease ? Diagnosis/Initial developmental delay Diagnosis/Definite - Phenotype details birth 40w, birth weight 3,865g (+0.66), length 48.26cm (-1.23), OFC 35.56cm (+0.52); weight 9.35kg (-0.06), height 75.5cm (+0.41), OFC 48.3 cmcm (+2.00); global developmental delay; gross motor delay; fine motor delay; speech delay; autistic features; difficult/delayed social interactions; no seizures; EEG normal; myoclonic movements and periodic limb movement in sleep; hypotonia; MRI brain normal; no musculoskeletal findings; feeding difficulties, gastresophageal reflux, delayed gastric emptying; brachycephaly; high arched palate Inheritance Isolated (sporadic) Age/Examination 11m Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-01-11 14:20:58 +01:00 (CET) Date last edited N/A

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