Phenotype #0000233309
| Individual ID |
00307886 |
| Associated disease |
CLN3 |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Initial |
- |
| Age/Examination |
- |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
04y08m |
| Age/Onset |
00y09m |
| Phenotype/Onset |
- |
| Phenotype details |
Visual impairment, Rod-cone dystrophy, Macular degeneration, Optic atrophy, Eczema, Atopic dermatitis, Seborrheic dermatitis, Alopecia, Macular dystrophy, Abnormal blood zinc concentration, Mixed hypo- and hyperpigmentation of the skin, Localized skin lesion |
| Protein |
- |
| Owner name |
Corina-Marcela Rus |
| Database submission license |
No license selected |
| Created by |
Corina-Marcela Rus |
| Date created |
2020-08-20 08:12:48 +02:00 (CEST) |
| Date last edited |
2020-08-23 15:27:30 +02:00 (CEST) |
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