Phenotype #0000333333

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00444075
Associated disease	THES1
Phenotype details	Congenital diarrhea, developmental delay, hair abnormalities, immunodeficiency, facial dysmorphism
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Trichohepatoenteric syndrome 1 (MIM #222470)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Murat Ozturk
Database submission license
Created by	Murat Ozturk
Date created	2023-12-13 11:42:09 +01:00 (CET)
Date last edited	2023-12-13 16:06:45 +01:00 (CET)

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