Global Variome shared LOVD

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Phenotype #0000233386 Individual ID 00307963 Associated disease ID Diagnosis/Initial intellectual diability Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details see paper; ..., Global developmental delay, Seizures, Macrocephaly, Prominent forehead, Generalized hypotonia, Downslanted palpebral fissures, Epicanthus, Anteverted nares, Cafe-au-lait spot Age/Examination 1y11m (1 year, 11 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 2020-08-23 13:31:08 +02:00 (CEST) Date last edited N/A

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