Global Variome shared LOVD

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Phenotype #0000356889 Individual ID 00472080 Associated disease KABUK Diagnosis/Initial Kabuki syndrome Diagnosis/Definite KABUK2 Phenotype details see paper; ..., long eyelashes; normal eye; high arch palate, small jaw; no skeletal anomalies; reduced subcutaneous fat; truncal hypotonia, mild developmental delay; no cardiovascular anomalies; feeding difficulties; no urogenital anomalies; poor weight gain and short stature Inheritance Isolated (sporadic) Age/Examination 17m Age/Diagnosis 7m 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 2026-01-07 11:45:49 +01:00 (CET) Date last edited N/A

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