Global Variome shared LOVD

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Phenotype #0000230432 Individual ID 00303355 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., no abnormalities during pregnancy; normal delivery; birth 37w; mild intellectual disability; developmental delay; motor delay, walking independantly 1;10y; speech delay; dysarthria; no epilepsy; EEG normal; no hypotonia; no spasticity; no ataxia; behavioral disturbances; no sleep disturbances; no regression; no other neurological abnormalities; asymmetry face, accesory auricles: Oculo-Auriculo-Vertebral Spectrum; dental surgery, gum problems, asymmetry; after jaw surgery; ear tag, agenesis ear canal; amblyopia; no cardiac abnormalities; fused ribs, scoliosis; no hypermobility joints; diaphragmatic hernia; no urogenital abnormalities; no endocrine/metabolic abnormalities; frequent respiratory infections childhood; normal skin, normal hair, normal nails; no neoplasms Inheritance Isolated (sporadic) Age/Examination 30y (30 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 2020-06-10 17:04:23 +02:00 (CEST) Date last edited 2021-04-11 14:04:10 +02:00 (CEST)

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