Global Variome shared LOVD

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Phenotype #0000356890 Individual ID 00472081 Associated disease KABUK Diagnosis/Initial Kabuki syndrome Diagnosis/Definite KABUK2 Phenotype details see paper; ..., long palpebral fissures; left homonymous hemianopsia visual field defect, exotropia (since resolved), and bilateral hyperopia; thin upper lip vermilion; hip dysplasia; normal hands; congenital partial agenesis of the corpus callosum with right paramedian posterior interhemispheric cyst, developmental delay, seizures; small atrial septal defect and resolving biventricular hypertrophy; feeding difficulties and gastroesophageal reflux; no urogenital anomalies; short stature: height <5th percentile Inheritance Unknown Age/Examination 8m Age/Diagnosis 2m 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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