Individual ID |
00261186 |
Associated disease |
RTS2 |
Inheritance |
Familial, autosomal recessive |
Diagnosis/Initial |
Rothmund-Thomson syndrome |
Age/Examination |
- |
Diagnosis/Definite |
- |
Age/Diagnosis |
- |
Age/Onset |
- |
Phenotype/Onset |
- |
Phenotype details |
bilateral juvenile cataracts, strabismus; poikiloderma; sparse hair or alopecia; cone-shaped teeth; dystrophic nails; hypothyroidism; undescended testes; short stature; growth hormone therapy; delayed bone age, short metacarpals/phalanges; attention-deficit hyperactivity disorder |
Protein |
- |
Owner name |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2019-08-11 13:19:15 +02:00 (CEST) |
Date last edited |
2019-08-12 20:40:22 +02:00 (CEST) |