Phenotype #0000174748

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00234329
Associated disease	XIGIS;MRD25
Phenotype details	convulsion, neurovelopmental disease, sleep apnea
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	Xia-Gibbs syndrome
Age/Examination	08y (8 years)
Age/Diagnosis	14y
Age/Onset	-
Phenotype/Onset	-
Protein	AHDC1
Owner name	Augusto César Cardoso-dos-Santos
Database submission license	No license selected
Created by	Augusto César Cardoso-dos-Santos
Date created	2019-05-08 04:12:01 +02:00 (CEST)
Date last edited	2019-05-15 10:03:42 +02:00 (CEST)

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