Global Variome shared LOVD

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Phenotype #0000015215 Individual ID 00016589 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details intellectual disability, (moderate to severe), no words, noncommunicating autism; 15m-sitting; no independent ambulation, hypotonia, failure to thrive, upturned earlobes, hypertelorism, esotropia, flat nasal bridge, suspected tracheomalacia in infancy, history of snoring; no macrodontia, no skeletal defects, nor other features of KGB syndrome Inheritance Isolated (sporadic) Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Marianne Vos (LOVD-team) Database submission license No license selected Created by Marianne Vos (LOVD-team) Date created 2014-05-09 14:29:12 +02:00 (CEST) Date last edited 2014-05-29 10:13:20 +02:00 (CEST)

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