Phenotype #0000325227

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00434980
Associated disease	KBGS
Phenotype details	High-arch and narrow palate, congenital heart defect; fifth finger brachydactyly, short hands, short feet, scoliosis, intellectual disability, short stature, delayed bone age
Diagnosis/Initial	Syndromic short stature
Inheritance	Complex
Diagnosis/Definite	KBG syndrome
Age/Examination	7
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	DYH
Owner name	Dongye He
Database submission license
Created by	Dongye He
Date created	2023-04-17 08:16:20 +02:00 (CEST)
Date last edited	2023-08-15 15:25:02 +02:00 (CEST)

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