Global Variome shared LOVD

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Phenotype #0000346198 Individual ID 00457749 Associated disease MRD57 Diagnosis/Initial - Diagnosis/Definite - Phenotype details Microcephaly, Autism, Intellectual disability, Developmental regression, EEG abnormality, Short stature, Decreased body weight, Upslanted palpebral fissure, Long nose, Abnormality of the outer ear Inheritance Isolated (sporadic) Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2024-11-18 12:45:16 +01:00 (CET) Date last edited 2024-11-20 15:24:58 +01:00 (CET)

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