Global Variome shared LOVD

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Phenotype #0000356304 Individual ID 00471497 Associated disease DRS3 Diagnosis/Initial - Diagnosis/Definite - Phenotype details Absent thumb, Abnormal shoulder morphology, Hypotonia, Limited elbow movement, Limitation of knee mobility, Abnormal tibia morphology, Abnormality of the face, Abnormality of the outer ear, Abnormal thumb morphology Inheritance Unknown Age/Examination 00y02m (2 months) 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 2025-12-24 12:13:10 +01:00 (CET) Date last edited 2025-12-24 14:15:08 +01:00 (CET)

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