Phenotype #0000245777

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00327491
Associated disease	-
Phenotype details	Hepatomegaly HP:0002240 Hypercholesterolemia HP:0003124 Elevated serum alanine aminotransferase HP:0031964 Diarrhea HP:0002014
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CESD
Age/Examination	-
Age/Diagnosis	11y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Sarah Snanoudj
Database submission license
Created by	Sarah Snanoudj
Date created	2021-01-22 11:15:41 +01:00 (CET)
Date last edited	2021-01-22 18:25:36 +01:00 (CET)

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