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 |
|