Global Variome shared LOVD

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Phenotype #0000356891 Individual ID 00472082 Associated disease KABUK Diagnosis/Initial Kabuki syndrome Diagnosis/Definite KABUK2 Phenotype details see paper; ..., long eyelashes, low-set ears, protruding ear lobes; left-side strabismus; normal mouth; no skeletal anomalies; fleshy finger pads; decreased symmetric muscle tone and strength; no cardiovascular anomalies; no gastrointestinal anomalies; no urogenital anomalies; no short stature Inheritance Isolated (sporadic) Age/Examination 18m Age/Diagnosis 18m 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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