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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