Phenotype #0000186763
| Individual ID |
00247538 |
| Associated disease |
KNDLRS |
| Phenotype details |
childhood atrophic and fragile hypo‐ and hyperpigmented skin, brachydactyly, syndactyly, nail dystrophy, dental caries; PatIII4 37y-invasive transitional cell carcinoma bladder |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
- |
| Age/Diagnosis |
37y |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
No license selected |
| Created by |
Cristina Has |
| Date created |
2015-01-28 18:05:34 +01:00 (CET) |
| Date last edited |
2020-08-03 14:23:02 +02:00 (CEST) |
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