Global Variome shared LOVD

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Phenotype #0000036760 Individual ID 00050148 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details no growth failure, normal behaviour, eye anomalies, skeletal abnormalities, facial dysmorphism; birth at term; severe intellectual disability (HP:0010864); global developmental delay (HP:0001263); no speech (HP:0001344) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Sébastien Küry Database submission license No license selected Created by Sébastien Küry Date created 2015-09-26 21:24:44 +02:00 (CEST) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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