Global Variome shared LOVD

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Phenotype #0000356887 Individual ID 00472078 Associated disease KABUK Diagnosis/Initial Kabuki syndrome Diagnosis/Definite KABUK2 Phenotype details see paper; ..., depressed nasal bridge; prominent eyes; small jaw; left ddh with pavlik harness; normal hands; sacral dimple; pda and small pfo with mild concentric lvh; feeding difficulties, cows milk protein intolerance; no urogenital anomalies; premature thelarche Inheritance Isolated (sporadic) Age/Examination 18m Age/Diagnosis 11m 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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