Phenotype #0000244488

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00326003
Associated disease	CESD
Phenotype details	Hepatomegaly HP:0002240 Death in infancy HP:0001522 Hypertriglyceridemia HP:0002155 Failure to thrive HP:0001508 Splenomegaly HP:0001744 Elevated serum alanine aminotransferase HP:0031964 Adrenal calcification HP:0010512 Anemia HP:0001903
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Sarah Snanoudj
Database submission license
Created by	Sarah Snanoudj
Date created	2021-01-06 16:36:42 +01:00 (CET)
Date last edited	2021-01-07 10:10:23 +01:00 (CET)

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