Global Variome shared LOVD

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Phenotype #0000074198 Individual ID 00095911 Associated disease NDHSAL Phenotype details developmental delay (HP:0001263), hypotonia (HP:0001252), sit unable, currently intractable tonic seizures, rocking and flapping hand behaviours, strabismus, nystagmus with fevers, MRI-brain mild ventriculomegaly and increased extra-axial fluid, G-tube fed, deep set eyes, ptosis, prominent forehead, osteopenia, frequent waking at night Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 00y33m (33 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-01-23 08:36:00 +01:00 (CET) Date last edited N/A

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