Phenotype #0000043041

Individual ID 00034385
Associated disease FH
Phenotype details see paper; 18 DCLN points, LDLC 13.25 mmol/L, arcus cornealis (HP:0001084), no xanthelasma (-HP:0001114), tendious xanthomas (HP:0010874; tuberous, no planar), tendinous xanthomata (HP:0000991), cardiomegaly (HP:0001640), ...
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 11y (11 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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