Global Variome shared LOVD

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Phenotype #0000050903 Individual ID 00064745 Associated disease DD Phenotype details see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), growth delay (HP:0001510), strabismus (HP:0000486), feeding difficulties (HP:0011968), EEG with generalized epileptiform discharges (HP:0011198), early onset hypotonia (HP:0008947), infantile spasms (HP:0012469) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 01y01m (1 year, 1 month) 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 2016-05-10 21:35:32 +02:00 (CEST) Date last edited N/A

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