Global Variome shared LOVD

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Phenotype #0000348024 Individual ID 00460295 Associated disease MRXSCJ Phenotype details Brachycephaly, Mandibular prognathia, Low-set ears, Delayed speech and language development, Postural instability, Incoordination, EEG abnormality, Short stature, Delayed fine motor development, Abnormal social behavior, Neurodevelopmental delay Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 07y (7 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2025-01-22 13:37:10 +01:00 (CET) Date last edited 2025-01-23 09:28:00 +01:00 (CET)

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