Global Variome shared LOVD

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Phenotype #0000254909 Individual ID 00359636 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details length 92 cm 5y (-3.2 SD), OFC 49 cm 5y (-0.8 SD); esotropia, hypertelorism, epicanthus; 5y-unable to walk; 5y-no meaningful words; normal vision; noral hearing; severe intellectual disability; seizures,5 times/day prior to treatment, epileptic spasms, myoclonus; MRI-brain normal structures; 1y-EEG-hypsarrhythmia Inheritance Isolated (sporadic) Age/Examination 5y (5 years) Age/Diagnosis - Age/Onset 4m 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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