Global Variome shared LOVD

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Phenotype #0000351752 Individual ID 00466389 Associated disease AOS2 Phenotype details Neurodevelopmental delay, Microcephaly, Abnormality of the distal phalanges of the toes, Abnormal distal phalanx morphology of finger, 2-3 toe syndactyly Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 09y (9 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2025-08-27 10:16:10 +02:00 (CEST) Date last edited 2025-08-29 19:33:54 +02:00 (CEST)

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