Global Variome shared LOVD

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Phenotype #0000068500 Individual ID 00089106 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal dominant Phenotype details delayed motor milestones, speech delay, hypotonia, lability of attention, intellectual disability, normal head circumference, minor dysmorphic features incl. epicanthal folds, ptosis, short philtrum, prognathism, fetal pads, protruding ears; intellectual disability (HP:0001249); speech delay (HP:0000750) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Karine Poirier Database submission license No license selected Created by Karine Poirier Date created 2016-11-29 12:14:08 +01:00 (CET) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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