Global Variome shared LOVD

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Phenotype #0000347572 Individual ID 00459494 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., OFC <3rd; short stature; no intellectual disability; developmental delay; no autistic features; no epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; Pierre Robin sequence, abnormal implantation hair, triangular face, mild hypotelorism, strabism, prnoued nasal bridge, columella moderately protuse, asymmetrical ears, thin lips, left ocular hypotropia, exotropia Inheritance Isolated (sporadic) Age/Examination 2.17y Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-01-06 10:01:48 +01:00 (CET) Date last edited N/A

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