Phenotype #0000356889

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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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
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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