Global Variome shared LOVD

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Phenotype #0000351803 Individual ID 00466440 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite NEDSID Phenotype details see paper; ..., mother history of miscarriage, uncomplicated pregnancy; height 126cm (+2 SD), weight 27.4kg (+1.5 SD), BMI 17.3 (+1.1 SD); no intellectual disability, no learning difficulties; no global developmental delay; behavioral abnormality; no sleep disturbance; -; 4y6m-seizures, epilepsy syndrome consistent with Doose syndrome; no hypotonia; no morphological abnormalities central nervous system; encephalopathy; dysarthria (mild); rremor (slight); dysgraphia (right hand); no joint hypermobility; no abnormality extremities; no abnormality digestive system; facial dysmorphisms, epicanthus, hypertelorism, wide nose, wide mouth Inheritance Isolated (sporadic) Age/Examination 6y (6 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 2025-09-05 12:24:33 +02:00 (CEST) Date last edited N/A

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