Phenotype #0000154006

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00205860
Associated disease	ABL
Phenotype details	see paper; ..., diarrhea, failure to thrive
Diagnosis/Initial	ABL
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	abetalipoproteinaemia
Age/Examination	07y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Mathilde Di Filippo
Database submission license
Created by	Mathilde Di Filippo
Date created	2018-11-12 10:32:51 +01:00 (CET)
Date last edited	2025-01-27 10:37:16 +01:00 (CET)

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