Global Variome shared LOVD

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Phenotype #0000210228 Individual ID 00275617 Associated disease ? Diagnosis/Initial global developmental delay Diagnosis/Definite - Phenotype details weight 126kg (>+2.0), height 185cm (+1.15), OFC 56.5cm (+0.67); mild/moderate intellectual disability ; global developmental delay; no autistic features; difficult/delayed social interactions; anxiety, depression; no seizures; EEG normal; no other abnormal movements; no hypotonia; no hypertonia; no MRI brain ; no ophthalmological findings; no cardiovascular anomalies; no GI manifestations; brachycephaly; no tall or broad forehead; no long face; no protruding ears; no short nose, no long philtrum; no hypotonic face, no open mouth; no high arched palate Inheritance Isolated (sporadic) Age/Examination 56y (56 years) 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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