Phenotype #0000043042

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00056431
Associated disease	FH
Phenotype details	see paper; 14 DCLN points, LDLC 17.38 mmol/L, no arcus cornealis (-HP:0001084), no xanthelasma (-HP:0001114), xanthomas (HP:0010874; planar, no tuberous), no tendinous xanthomata (-HP:0000991), no cardiomegaly (-HP:0001640), ...
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	9y (9 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Jagdish Kaur Chahil
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2016-01-04 11:49:14 +01:00 (CET)
Date last edited	N/A

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