Global Variome shared LOVD

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Phenotype #0000254908 Individual ID 00359635 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details length 96 cm 3y (+0.7 SD), OFC 47 cm 3y (-1.6 SD); high arched palate; 3y-walk, normal ambulation; 2y-first words; normal vision; noral hearing; moderate intellectual disability; seizures, 50 times/day prior to treatment, epileptic spasms, focal; MRI-brain delayed myelination; 4m-EEG-hypsarrhythmia Inheritance Isolated (sporadic) Age/Examination 3y (3 years) Age/Diagnosis - Age/Onset 1m 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 2021-04-03 15:08:35 +02:00 (CEST) Date last edited N/A

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