Global Variome shared LOVD

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Phenotype #0000127743 Individual ID 00154932 Associated disease ID Diagnosis/Initial Developmental delay Diagnosis/Definite Intellectual disability, autism, seizures Inheritance Isolated (sporadic) Phenotype details pregnancy uneventful; moderate intellectual disability (HP:0002342); moderate global developmental delay (HP:0011343); severe speech delay (HP:0000750) Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset 00y06m Phenotype/Onset Developmental delay Protein - Owner name Elsebet Østergaard Database submission license No license selected Created by N/A Date created 2018-03-12 16:48:45 +01:00 (CET) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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